#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	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		12	447	0	0	0	1	0	12	447				
DNAH11	8701	broad.mit.edu	37	7	21599227	21599227	+	Silent	SNP	G	G	A	rs373971291		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:21599227G>A	ENST00000409508.3	+	4	730	c.699G>A	c.(697-699)ccG>ccA	p.P233P	DNAH11_ENST00000328843.6_Silent_p.P233P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	233	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGGCCACCGTCAAACGAAA	0.308									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(697-699)ccG>ccA		dynein, axonemal, heavy chain 11		G		0,3650		0,0,1825	60.0	58.0	59.0		699	-3.4	0.0	7		59	1,8153		0,1,4076	no	coding-synonymous	DNAH11	NM_003777.3		0,1,5901	AA,AG,GG		0.0123,0.0,0.0085		233/4524	21599227	1,11803	1825	4077	5902	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21599227G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.699G>A	7.37:g.21599227G>A						DNAH11_ENST00000409508.3_Silent_p.P233P	p.P233P			Q96DT5	DYH11_HUMAN			4	730	+			233			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.699G>A																																																																																					0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		28	192	0	0	0	1	0	28	192				
MYT1	4661	broad.mit.edu	37	20	62839374	62839374	+	Silent	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:62839374A>G	ENST00000328439.1	+	7	1189	c.825A>G	c.(823-825)gaA>gaG	p.E275E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E275E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.D274_E275delDE(1)		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)					aggaggatgaagaagaggaag	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			1	Deletion - In frame(1)	p.D274_E275delDE(1)	kidney(1)	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.(823-825)gaA>gaG		myelin transcription factor 1							23.0	22.0	22.0					20																	62839374		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839374A>G	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.825A>G	20.37:g.62839374A>G						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E275E	p.E275E			Q01538	MYT1_HUMAN			7	1189	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		275			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.825A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	62	0	0	0	1	0	3	62				
CDKN2A	1029	broad.mit.edu	37	9	21974704	21974704	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974704C>A	ENST00000304494.5	-	1	393	c.123G>T	c.(121-123)ccG>ccT	p.P41P	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Silent_p.P41P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	41					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGTAACTATTCGGTGCGTTGG	0.697		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(121-123)ccG>ccT		cyclin-dependent kinase inhibitor 2A							46.0	56.0	52.0					9																	21974704		2202	4300	6502	SO:0001819	synonymous_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974704C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.123G>T	9.37:g.21974704C>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Silent_p.P41P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron	p.P41P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	393	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	41					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000304494.5	37	c.123G>T	CCDS6510.1																																																																																				0.697	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		285	190	1	0	5.25247e-111	1	5.89803e-111	285	190				
L1CAM	3897	broad.mit.edu	37	X	153138054	153138054	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:153138054C>G	ENST00000370060.1	-	4	379	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	64	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTGCACTTCGGGCTTGCCA	0.602																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(190-192)Gaa>Caa		L1 cell adhesion molecule							91.0	70.0	77.0					X																	153138054		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153138054C>G	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.190G>C	X.37:g.153138054C>G	ENSP00000359077:p.Glu64Gln					L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q	p.E64Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			4	379	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		64			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.190G>C	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329577	0.24167	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.69	1.83	0.25207	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182154	0.37095	N	0.002256	T	0.11196	0.0273	N	0.21240	0.645	0.09310	N	1	B;B;B	0.18741	0.03;0.008;0.01	B;B;B	0.30179	0.112;0.046;0.076	T	0.26849	-1.0091	10	0.35671	T	0.21	.	13.9763	0.64275	0.0:0.3682:0.6318:0.0	.	59;64;64	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Q	64;66;64;66;59;59;64;64;59;59;64	ENSP00000359077:E64Q;ENSP00000438430:E66Q;ENSP00000359074:E64Q;ENSP00000439645:E66Q;ENSP00000354712:E59Q;ENSP00000359072:E59Q;ENSP00000355380:E64Q;ENSP00000402407:E64Q;ENSP00000384902:E59Q;ENSP00000392524:E59Q;ENSP00000396079:E64Q	ENSP00000355380:E64Q	E	-	1	0	L1CAM	152791248	0.001000	0.12720	0.195000	0.23364	0.913000	0.54294	-0.399000	0.07250	0.066000	0.16515	0.529000	0.55759	GAA		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		67	158	0	0	0	1	0	67	158				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	141	0	0	0	1	0	4	141				
CDKN2A	1029	broad.mit.edu	37	9	21974782	21974782	+	Nonsense_Mutation	SNP	C	C	T	rs138677674		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974782C>T	ENST00000304494.5	-	1	315	c.45G>A	c.(43-45)tgG>tgA	p.W15*	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCG	0.756		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1346	Whole gene deletion(1316)|Unknown(23)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(58)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM994496	CDKN2A	M	rs138677674	c.(43-45)tgG>tgA		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21974782		1680	3539	5219	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974782C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.45G>A	9.37:g.21974782C>T	ENSP00000307101:p.Trp15*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron	p.W15*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	315	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	15					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.45G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307496	0.81247	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.23802	N	0.996805	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.1873	0.43006	0.0:0.8197:0.0:0.1803	.	.	.	.	X	15	.	ENSP00000307101:W15X	W	-	3	0	CDKN2A	21964782	0.000000	0.05858	0.013000	0.15412	0.019000	0.09904	-0.767000	0.04720	1.375000	0.46248	0.655000	0.94253	TGG		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	122	0	0	0	1	0	4	122				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>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.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	437	1	0	0.000308642	1	0.000316515	14	437				
RBM27	54439	broad.mit.edu	37	5	145651191	145651191	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:145651191G>A	ENST00000265271.5	+	19	3108	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	981					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAACAGTTGGAGGATTCATT	0.443																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2941-2943)gGa>gAa		RNA binding motif protein 27							141.0	136.0	138.0					5																	145651191		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651191G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2942G>A	5.37:g.145651191G>A	ENSP00000265271:p.Gly981Glu					RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	p.G981E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3108	+			981					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2942G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225732	0.39300	.	.	ENSG00000091009	ENST00000265271	T	0.41065	1.01	4.93	3.02	0.34903	.	0.351548	0.27019	N	0.021331	T	0.26048	0.0635	N	0.22421	0.69	0.32293	N	0.566076	B	0.19583	0.037	B	0.13407	0.009	T	0.18935	-1.0321	10	0.30854	T	0.27	-10.6489	10.0237	0.42059	0.0:0.1252:0.635:0.2397	.	981	Q9P2N5	RBM27_HUMAN	E	981	ENSP00000265271:G981E	ENSP00000265271:G981E	G	+	2	0	RBM27	145631384	0.676000	0.27567	1.000000	0.80357	0.993000	0.82548	2.866000	0.48420	2.445000	0.82738	0.650000	0.86243	GGA		0.443	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		56	173	0	0	0	1	0	56	173				
KIAA1210	57481	broad.mit.edu	37	X	118284525	118284525	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	6								p.T6T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCCTCGAGGCGTCCAGCCGG	0.652																																						ENST00000402510.2																			1	Substitution - coding silent(1)	p.T6T(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(16-18)acG>acT		KIAA1210							57.0	66.0	63.0					X																	118284525		2017	4144	6161	SO:0001819	synonymous_variant	57481							g.chrX:118284525C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.18G>T	X.37:g.118284525C>A							p.T6T	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			1	17	-			6					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.18G>T	CCDS48156.1																																																																																				0.652	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		118	84	1	0	3.25069e-62	1	3.62994e-62	118	84				
TDG	6996	broad.mit.edu	37	12	104377099	104377099	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:104377099G>T	ENST00000392872.3	+	7	958	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	TDG_ENST00000266775.9_Missense_Mutation_p.V238F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Missense_Mutation_p.V99F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	242					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAGTAAAGAAGTTTTTGGAGT	0.284								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(724-726)Gtt>Ttt	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							46.0	49.0	48.0					12																	104377099		2167	4277	6444	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377099G>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.724G>T	12.37:g.104377099G>T	ENSP00000376611:p.Val242Phe					TDG_ENST00000266775.9_Missense_Mutation_p.V238F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F	p.V242F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	958	+			242					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.724G>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539433	0.65085	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.92;0.92	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.258187	0.39083	N	0.001468	T	0.55737	0.1939	N	0.25380	0.74	0.40131	D	0.976715	D;P;B	0.71674	0.998;0.934;0.233	P;P;B	0.60789	0.879;0.545;0.151	T	0.59804	-0.7385	10	0.62326	D	0.03	-28.8349	12.5149	0.56026	0.0764:0.0:0.9236:0.0	.	38;242;242	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	F	242;238;99;235;38	ENSP00000376611:V242F;ENSP00000266775:V238F;ENSP00000445899:V99F;ENSP00000439825:V235F;ENSP00000439054:V38F	ENSP00000266775:V238F	V	+	1	0	TDG	102901229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.522000	0.45572	2.518000	0.84900	0.563000	0.77884	GTT		0.284	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			15	573	1	0	1.02788e-11	1	1.0817e-11	15	573				
KIR3DX1	90011	broad.mit.edu	37	19	55048290	55048290	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55048290C>T	ENST00000335056.3	+	5	895	c.857C>T	c.(856-858)aCg>aTg	p.T286M	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	286	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCGTGCAACGCCAGTCCCT	0.562																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(856-858)aCg>aTg									92.0	90.0	91.0					19																	55048290		1942	4147	6089	SO:0001583	missense	0							g.chr19:55048290C>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.857C>T	19.37:g.55048290C>T	ENSP00000335388:p.Thr286Met					KIR3DX1_ENST00000482404.1_3'UTR	p.T286M						GBM - Glioblastoma multiforme(193;0.099)	5	895	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.857C>T		.	.	.	.	.	.	.	.	.	.	c	3.085	-0.188251	0.06299	.	.	ENSG00000104970	ENST00000335056	T	0.03801	3.8	1.79	-3.58	0.04597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03564	0.0102	.	.	.	0.09310	N	1	P	0.36974	0.576	B	0.34301	0.179	T	0.19418	-1.0306	8	0.72032	D	0.01	.	4.1502	0.10234	0.0:0.2279:0.3523:0.4198	.	286	Q9H7L2	KI3X1_HUMAN	M	286	ENSP00000335388:T286M	ENSP00000221567:T286M	T	+	2	0	KIR3DX1	59740102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.835000	0.00180	-1.702000	0.01411	-1.605000	0.00808	ACG		0.562	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		172	613	0	0	0	1	0	172	613				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	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			17	83	1	0	1.50538e-07	1	1.57595e-07	17	83				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		15	100	0	0	0	1	0	15	100				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	1002	0	0	0	1	0	7	1002				
FAM120C	54954	broad.mit.edu	37	X	54184132	54184132	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:54184132G>T	ENST00000375180.2	-	3	1075	c.1019C>A	c.(1018-1020)gCa>gAa	p.A340E	FAM120C_ENST00000328235.4_Missense_Mutation_p.A340E	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	340							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTAAGTGATGCAAGAGGATG	0.388																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1018-1020)gCa>gAa		family with sequence similarity 120C							105.0	83.0	90.0					X																	54184132		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54184132G>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1019C>A	X.37:g.54184132G>T	ENSP00000364324:p.Ala340Glu					FAM120C_ENST00000328235.4_Missense_Mutation_p.A340E	p.A340E	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			3	1075	-			340					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.1019C>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528908	0.64860	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.55052	0.54;0.54	4.71	3.84	0.44239	.	0.057651	0.64402	D	0.000002	T	0.63931	0.2553	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.60393	-0.7272	10	0.35671	T	0.21	-8.7777	11.5581	0.50761	0.0938:0.0:0.9061:0.0	.	340;340	F8W881;Q9NX05	.;F120C_HUMAN	E	340	ENSP00000364324:A340E;ENSP00000329896:A340E	ENSP00000329896:A340E	A	-	2	0	FAM120C	54200857	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.629000	0.83207	0.876000	0.35872	0.506000	0.49869	GCA		0.388	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		18	26	1	0	9.7654e-05	1	0.000100659	18	26				
THSD7B	80731	broad.mit.edu	37	2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1270	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTAGGTCGAATGAGCCGG	0.478																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3802-3804)cGa>cAa		thrombospondin, type I, domain containing 7B							121.0	118.0	119.0					2																	138400061		1894	4125	6019	SO:0001583	missense	80731							g.chr2:138400061G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3803G>A	2.37:g.138400061G>A	ENSP00000387145:p.Arg1268Gln					THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000543459.1_Intron	p.R1268Q						BRCA - Breast invasive adenocarcinoma(221;0.19)	21	3981	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3803G>A		.	.	.	.	.	.	.	.	.	.	G	11.34	1.609124	0.28623	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51325	0.71;0.71;0.71	5.29	-0.929	0.10444	.	1.100800	0.06637	N	0.760367	T	0.21103	0.0508	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46582	-0.9181	10	0.02654	T	1	.	10.7598	0.46258	0.6294:0.0:0.3706:0.0	.	1240	C9JKN6	.	Q	1268;1271;1240	ENSP00000387145:R1268Q;ENSP00000272643:R1271Q;ENSP00000413841:R1240Q	ENSP00000272643:R1271Q	R	+	2	0	THSD7B	138116531	0.970000	0.33590	0.992000	0.48379	0.992000	0.81027	-0.041000	0.12084	-0.106000	0.12110	-0.258000	0.10820	CGA		0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		175	340	0	0	0	1	0	175	340				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		11	474	0	0	0	1	0	11	474				
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						ENST00000375050.4																			3	Substitution - Missense(3)	p.Y262F(3)	lung(3)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(784-786)tAt>tTt		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe						p.Y262F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			5	1055	-			262					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			5	80	0	0	0	1	0	5	80				
GCN1L1	10985	broad.mit.edu	37	12	120575585	120575585	+	Missense_Mutation	SNP	C	C	T	rs115993320		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:120575585C>T	ENST00000300648.6	-	49	6439	c.6427G>A	c.(6427-6429)Gta>Ata	p.V2143I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2143					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCCTCTACGGAGAGGATC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20372	0.0		0.0	False		,,,				2504	0.0					ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6427-6429)Gta>Ata		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							40.0	47.0	45.0					12																	120575585		2112	4226	6338	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120575585C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6427G>A	12.37:g.120575585C>T	ENSP00000300648:p.Val2143Ile						p.V2143I	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			49	6439	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2143					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6427G>A	CCDS41847.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.31	3.803967	0.70682	.	.	ENSG00000089154	ENST00000300648	T	0.64991	-0.13	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	P	0.56474	0.799	T	0.70730	-0.4792	10	0.33141	T	0.24	.	19.1167	0.93344	0.0:1.0:0.0:0.0	.	2143	Q92616	GCN1L_HUMAN	I	2143	ENSP00000300648:V2143I	ENSP00000300648:V2143I	V	-	1	0	GCN1L1	119059968	1.000000	0.71417	0.285000	0.24819	0.900000	0.52787	7.267000	0.78462	2.498000	0.84270	0.514000	0.50259	GTA		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			27	91	0	0	0	1	0	27	91				
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1				BMS1 pseudogene 20																		CCAGCCTTCTGTAACCCAGTA	0.428													.|||	2693	0.53774	0.6089	0.5115	5008	,	,		17865	0.4008		0.5577	False		,,,				2504	0.5808					ENST00000426066.1																			0																																																			0							g.chr22:22664639G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664639G>A								NR_027293.1						0	820	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.428	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	167	0	0	0	1	0	5	167				
TEX19	400629	broad.mit.edu	37	17	80320465	80320465	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:80320465T>C	ENST00000333437.4	+	2	749	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	147					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGTCTTCCCTGGAGATTTGA	0.597																																						ENST00000333437.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(439-441)Tgg>Cgg		testis expressed 19							51.0	51.0	51.0					17																	80320465		2203	4297	6500	SO:0001583	missense	400629					nucleus		g.chr17:80320465T>C	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.439T>C	17.37:g.80320465T>C	ENSP00000331500:p.Trp147Arg						p.W147R	NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN			2	749	+			147						Missense_Mutation	SNP	ENST00000333437.4	37	c.439T>C	CCDS11809.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901393	0.33535	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	T	0.58524	0.2128	L	0.34521	1.04	0.36261	D	0.85455	D	0.89917	1.0	D	0.87578	0.998	T	0.66376	-0.5939	8	0.87932	D	0	-12.8215	8.7547	0.34639	0.0:0.0:0.0:1.0	.	147	Q8NA77	TEX19_HUMAN	R	147	.	ENSP00000331500:W147R	W	+	1	0	TEX19	77913754	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	1.553000	0.36255	1.836000	0.53414	0.460000	0.39030	TGG		0.597	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		85	393	0	0	0	1	0	85	393				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		12	51	0	0	0	1	0	12	51				
PLEKHH2	130271	broad.mit.edu	37	2	43937444	43937444	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:43937444G>T	ENST00000282406.4	+	13	2299	c.2189G>T	c.(2188-2190)gGt>gTt	p.G730V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	730	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.			G -> C (in Ref. 1; CAI46132). {ECO:0000305}.	negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTAAAGGTGGTGAATTACTT	0.363																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2188-2190)gGt>gTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							112.0	125.0	121.0					2																	43937444		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937444G>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2189G>T	2.37:g.43937444G>T	ENSP00000282406:p.Gly730Val						p.G730V	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			13	2299	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	730	G -> C (in Ref. 1; CAI46132).		PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2189G>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832003	0.71258	.	.	ENSG00000152527	ENST00000282406	T	0.76578	-1.03	5.02	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056676	0.64402	D	0.000001	D	0.88429	0.6434	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;0.999	D	0.90058	0.4154	10	0.87932	D	0	-10.151	15.0911	0.72195	0.0:0.1426:0.8574:0.0	.	730;167;730	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	V	730	ENSP00000282406:G730V	ENSP00000282406:G730V	G	+	2	0	PLEKHH2	43790948	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.354000	0.73036	1.043000	0.40175	0.563000	0.77884	GGT		0.363	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		176	404	1	0	7.56309e-61	1	8.3988e-61	176	404				
ZSCAN10	84891	broad.mit.edu	37	16	3140385	3140385	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:3140385C>T	ENST00000252463.2	-	5	972	c.885G>A	c.(883-885)gcG>gcA	p.A295A	ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCCGCAGTCCGCGCAGATGA	0.632																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(883-885)gcG>gcA		zinc finger and SCAN domain containing 10							50.0	52.0	52.0					16																	3140385		2165	4244	6409	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140385C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.885G>A	16.37:g.3140385C>T						ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	p.A295A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	972	-			295					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.885G>A	CCDS10493.1																																																																																				0.632	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		93	346	0	0	0	1	0	93	346				
NCKAP5	344148	broad.mit.edu	37	2	133540781	133540781	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:133540781G>A	ENST00000409261.1	-	14	3976	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1201										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACCCGCTGTGATCTCCATGC	0.478																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3601-3603)atC>atT		NCK-associated protein 5							85.0	84.0	84.0					2																	133540781		1949	4148	6097	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540781G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3603C>T	2.37:g.133540781G>A						NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.I1201I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3976	-			1201					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3603C>T	CCDS46418.1																																																																																				0.478	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		39	276	0	0	0	1	0	39	276				
FMNL3	91010	broad.mit.edu	37	12	50044493	50044493	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:50044493G>A	ENST00000293590.5	-	17	2199	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C|FMNL3_ENST00000335154.5_Missense_Mutation_p.R656C			Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAGCCGAGCGGCCAGCCTTG	0.582																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1966-1968)Cgc>Tgc		formin-like 3							101.0	98.0	99.0					12																	50044493		2051	4215	6266	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044493G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1966C>T	12.37:g.50044493G>A	ENSP00000293590:p.Arg656Cys					FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C	p.R656C	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			17	2199	-			656			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1966C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.085302	0.76642	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.12	5.12	0.69794	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050640	0.64402	D	0.000001	T	0.24774	0.0601	L	0.27053	0.805	0.53688	D	0.999977	D;D;D	0.76494	0.998;0.996;0.999	D;P;P	0.64042	0.921;0.736;0.848	T	0.00383	-1.1774	10	0.51188	T	0.08	.	11.2905	0.49247	0.0:0.0:0.72:0.28	.	605;656;656	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	C	656;656;605;656	ENSP00000335655:R656C;ENSP00000447479:R656C;ENSP00000344311:R605C;ENSP00000293590:R656C	ENSP00000293590:R656C	R	-	1	0	FMNL3	48330760	0.983000	0.35010	1.000000	0.80357	0.980000	0.70556	1.336000	0.33850	2.834000	0.97654	0.650000	0.86243	CGC		0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		50	251	0	0	0	1	0	50	251				
ZNF37BP	100129482	broad.mit.edu	37	10	43019068	43019068	+	RNA	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:43019068A>G	ENST00000452075.3	-	0	886					NR_026777.1				zinc finger protein 37B, pseudogene																		ACCTACTGAGACAAGGTGGCT	0.438																																						ENST00000473592.1																			0																																																			0							g.chr10:43019068A>G	AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43019068A>G														0	2491	-									RNA	SNP	ENST00000452075.3	37																																																																																						0.438	ZNF37BP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047675.2	NR_026777		64	296	0	0	0	1	0	64	296				
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	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)			cgttcctctctcagcagctgc	0.612																																						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.(3373-3375)Aga>Gga		trichohyalin							93.0	94.0	94.0					1																	152082320		1979	4139	6118	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082320T>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.3373A>G	1.37:g.152082320T>C	ENSP00000357794:p.Arg1125Gly						p.R1125G	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3372	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1125			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3373A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	5.521	0.281051	0.10458	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	2.38	1.02	0.19986	.	.	.	.	.	T	0.04407	0.0121	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.59171	0.853	T	0.40590	-0.9555	9	0.28530	T	0.3	.	5.1512	0.15011	0.0:0.0:0.3026:0.6974	.	1125	Q07283	TRHY_HUMAN	G	1125	ENSP00000357794:R1125G	ENSP00000357794:R1125G	R	-	1	2	TCHH	150348944	0.001000	0.12720	0.006000	0.13384	0.018000	0.09664	1.171000	0.31896	0.940000	0.37473	0.379000	0.24179	AGA		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	969	0	0	0	1	0	6	969				
PRG4	10216	broad.mit.edu	37	1	186276064	186276064	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276064G>T	ENST00000445192.2	+	7	1258	c.1213G>T	c.(1213-1215)Gca>Tca	p.A405S	PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1213-1215)Gca>Tca		proteoglycan 4							91.0	86.0	88.0					1																	186276064		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276064G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1213G>T	1.37:g.186276064G>T	ENSP00000399679:p.Ala405Ser					PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S|PRG4_ENST00000367484.3_Intron	p.A405S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1258	+			405			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1213G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.260	0.416005	0.11870	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.06142	3.34;3.44;3.39;3.46	3.29	-0.723	0.11181	.	.	.	.	.	T	0.03871	0.0109	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.004;0.007	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.46005	-0.9222	8	.	.	.	.	0.4948	0.00570	0.1791:0.2004:0.2175:0.4031	.	271;312;405;364	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	362;271;364;312;405	ENSP00000356456:A362S;ENSP00000356453:A364S;ENSP00000356455:A312S;ENSP00000399679:A405S	.	A	+	1	0	PRG4	184542687	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.332000	0.07904	0.056000	0.16144	-0.420000	0.06012	GCA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	607	1	0	7.48243e-07	1	7.79258e-07	6	607				
CUBN	8029	broad.mit.edu	37	10	16877170	16877170	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:16877170G>A	ENST00000377833.4	-	64	10270	c.10205C>T	c.(10204-10206)gCa>gTa	p.A3402V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3402	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCCAAATGCCTTGTGATA	0.438																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10204-10206)gCa>gTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						131.0	118.0	123.0					10																	16877170		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877170G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10205C>T	10.37:g.16877170G>A	ENSP00000367064:p.Ala3402Val						p.A3402V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10270	-			3402			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10205C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493742	0.12702	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19105	2.17	4.84	2.92	0.33932	CUB (5);	0.738516	0.11552	N	0.552718	T	0.24236	0.0587	L	0.47716	1.5	0.24037	N	0.996099	P	0.40360	0.714	B	0.43990	0.438	T	0.10291	-1.0636	10	0.30854	T	0.27	.	11.3802	0.49752	0.0:0.1371:0.7202:0.1427	.	3402	O60494	CUBN_HUMAN	V	3402;243	ENSP00000367064:A3402V	ENSP00000367064:A3402V	A	-	2	0	CUBN	16917176	0.660000	0.27420	0.004000	0.12327	0.008000	0.06430	2.533000	0.45667	0.593000	0.29745	-0.314000	0.08810	GCA		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		88	366	0	0	0	1	0	88	366				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	369	0	0	0	1	0	8	369				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	165	0	0	0	1	0	5	165				
DLGAP2	9228	broad.mit.edu	37	8	1645335	1645335	+	Missense_Mutation	SNP	C	C	T	rs373082856		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:1645335C>T	ENST00000421627.2	+	11	2713	c.2579C>T	c.(2578-2580)cCg>cTg	p.P860L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	939					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGCCGAGGCCGACGTCGCAG	0.667																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2578-2580)cCg>cTg		discs, large (Drosophila) homolog-associated protein 2		C	LEU/PRO	0,4008		0,0,2004	23.0	28.0	26.0		2579	4.9	0.1	8		26	2,8302		0,2,4150	no	missense	DLGAP2	NM_004745.3	98	0,2,6154	TT,TC,CC		0.0241,0.0,0.0162	probably-damaging	860/976	1645335	2,12310	2004	4152	6156	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1645335C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2579C>T	8.37:g.1645335C>T	ENSP00000400258:p.Pro860Leu						p.P860L	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2713	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	939					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2579C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766620|3.766620	0.69878|0.69878	0.0|0.0	2.41E-4|2.41E-4	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.22945|.	1.93|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83695|.	0.5310|.	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.992|.	D;D|.	0.97110|.	1.0;0.976|.	D|.	0.86683|.	0.1918|.	10|.	0.87932|.	D|.	0|.	-12.8537|-12.8537	18.0887|18.0887	0.89466|0.89466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	925;939|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|X	891;860|863	ENSP00000400258:P860L|.	ENSP00000348366:P891L|.	P|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1632742|1632742	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.254000|0.254000	0.26022|0.26022	7.404000|7.404000	0.79996|0.79996	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	CCG|CGA		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		22	80	0	0	0	1	0	22	80				
OR13C8	138802	broad.mit.edu	37	9	107332226	107332226	+	Missense_Mutation	SNP	G	G	A	rs193198194	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:107332226G>A	ENST00000335040.1	+	1	778	c.778G>A	c.(778-780)Gca>Aca	p.A260T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CTTCATGTACGCAAAGCCTGA	0.458													G|||	16	0.00319489	0.0	0.0	5008	,	,		18648	0.0149		0.0	False		,,,				2504	0.001					ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(778-780)Gca>Aca		olfactory receptor, family 13, subfamily C, member 8		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	110.0	97.0	101.0		778	1.9	0.8	9		101	0,8600		0,0,4300	yes	missense	OR13C8	NM_001004483.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	260/321	107332226	1,13005	2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332226G>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.778G>A	9.37:g.107332226G>A	ENSP00000334068:p.Ala260Thr						p.A260T	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	778	+			260					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.778G>A	CCDS35090.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	2.888	-0.230376	0.05983	2.27E-4	0.0	ENSG00000186943	ENST00000335040	T	0.37235	1.21	4.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.227963	0.31347	N	0.007818	T	0.21718	0.0523	L	0.28608	0.87	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.12451	-1.0547	10	0.48119	T	0.1	.	4.3089	0.10960	0.2736:0.1667:0.5598:0.0	.	260	Q8NGS7	O13C8_HUMAN	T	260	ENSP00000334068:A260T	ENSP00000334068:A260T	A	+	1	0	OR13C8	106372047	0.000000	0.05858	0.836000	0.33094	0.068000	0.16541	-2.852000	0.00731	0.791000	0.33826	-0.224000	0.12420	GCA		0.458	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			5	302	0	0	0	1	0	5	302				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		5	46	0	0	0	1	0	5	46				
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													A|||	2	0.000399361	0.0008	0.0	5008	,	,		15717	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			2	Substitution - Missense(2)	p.S133P(2)	lung(1)|central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(397-399)Tct>Cct		odorant binding protein 2B							79.0	74.0	76.0					9																	136081795		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081795A>G	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.397T>C	9.37:g.136081795A>G	ENSP00000361104:p.Ser133Pro					OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	p.S133P	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	438	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.397T>C	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130056	0.00338	.	.	ENSG00000171102	ENST00000372034	T	0.05855	3.38	2.38	-0.713	0.11223	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	N	0.160204	T	0.01029	0.0034	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	10	0.02654	T	1	-11.4445	5.2433	0.15483	0.4751:0.0:0.5249:0.0	rs1132279;rs3192931	133	Q9NPH6	OBP2B_HUMAN	P	133	ENSP00000361104:S133P	ENSP00000361104:S133P	S	-	1	0	OBP2B	135071616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.185000	0.10550	-1.067000	0.02272	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		9	304	0	0	0	1	0	9	304				
ALCAM	214	broad.mit.edu	37	3	105290748	105290748	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:105290748A>G	ENST00000306107.5	+	15	2217	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E|ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	573					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGAAAACAAAAAGTTAGAAGA	0.353																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1717-1719)Aag>Gag		activated leukocyte cell adhesion molecule							72.0	69.0	70.0					3																	105290748		2203	4299	6502	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105290748A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1717A>G	3.37:g.105290748A>G	ENSP00000305988:p.Lys573Glu					ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E|ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E	p.K573E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			15	2217	+			573					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1717A>G	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.78|18.78	3.696782|3.696782	0.68386|0.68386	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|T	0.58060|0.25579	0.42;0.58;0.36;1.15|1.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D|.	0.63880|.	0.993;0.993;0.993|.	D;D;D|.	0.70935|.	0.956;0.956;0.971|.	T|T	0.02282|0.02282	-1.1183|-1.1183	10|8	0.44086|0.29301	T|T	0.13|0.29	-17.4549|-17.4549	15.7464|15.7464	0.77949|0.77949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	295;560;573|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	E|R	573;560;522;295|333	ENSP00000305988:K573E;ENSP00000419236:K560E;ENSP00000418213:K522E;ENSP00000374577:K295E|ENSP00000418937:K333R	ENSP00000305988:K573E|ENSP00000418937:K333R	K|K	+|+	1|2	0|0	ALCAM|ALCAM	106773438|106773438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.000000|6.000000	0.70678|0.70678	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.353	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		72	333	0	0	0	1	0	72	333				
TIAM1	7074	broad.mit.edu	37	21	32493062	32493062	+	Missense_Mutation	SNP	G	G	A	rs201116117		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32493062G>A	ENST00000286827.3	-	29	4871	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1467					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTTTCTCCGGGCTGCTTGC	0.577																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4399-4401)cCg>cTg		T-cell lymphoma invasion and metastasis 1							47.0	51.0	49.0					21																	32493062		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493062G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4400C>T	21.37:g.32493062G>A	ENSP00000286827:p.Pro1467Leu					TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	p.P1467L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	4871	-			1467					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4400C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789061	0.90367	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.42131	0.98;1.01	5.14	5.14	0.70334	.	0.126543	0.53938	D	0.000041	T	0.49525	0.1562	L	0.50333	1.59	0.80722	D	1	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.51012	-0.8759	10	0.51188	T	0.08	.	18.6336	0.91369	0.0:0.0:1.0:0.0	.	1407;1467	F5GZ53;Q13009	.;TIAM1_HUMAN	L	1467;1407	ENSP00000286827:P1467L;ENSP00000441570:P1407L	ENSP00000286827:P1467L	P	-	2	0	TIAM1	31414933	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.421000	0.80204	2.377000	0.81083	0.655000	0.94253	CCG		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		55	281	0	0	0	1	0	55	281				
XRCC3	7517	broad.mit.edu	37	14	104169592	104169592	+	Missense_Mutation	SNP	C	C	T	rs546280840		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:104169592C>T	ENST00000553264.1	-	5	1275	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555832.1_5'Flank|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	160					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGTGCGCAGCCGCGGCTGCTG	0.622								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0.0008	0.0	5008	,	,		18134	0.0		0.0	False		,,,				2504	0.0					ENST00000553264.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(478-480)cGg>cAg	Direct reversal of damage;Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 3							38.0	30.0	32.0					14																	104169592		2186	4291	6477	SO:0001583	missense	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169592C>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.479G>A	14.37:g.104169592C>T	ENSP00000451974:p.Arg160Gln					XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q	p.R160Q			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1275	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	160					O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.479G>A	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858680	0.17178	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.7	-3.94	0.04130	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	1.857050	0.02717	N	0.113582	T	0.30759	0.0775	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.24297	-1.0164	10	0.31617	T	0.26	-22.7782	12.9742	0.58529	0.0:0.165:0.0:0.835	.	160	O43542	XRCC3_HUMAN	Q	160	ENSP00000451362:R160Q;ENSP00000343392:R160Q;ENSP00000451974:R160Q;ENSP00000452598:R160Q;ENSP00000412990:R160Q	ENSP00000343392:R160Q	R	-	2	0	XRCC3	103239345	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.699000	0.01906	-0.879000	0.04002	-0.367000	0.07326	CGG		0.622	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	NM_005432		5	33	0	0	0	1	0	5	33				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	259	0	0	0	1	0	6	259				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	260	1	0	0.150653	1	0.150653	4	260				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	409	0	0	0	1	0	5	409				
ALMS1	7840	broad.mit.edu	37	2	73786204	73786204	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:73786204G>A	ENST00000264448.6	+	15	10427	c.10316G>A	c.(10315-10317)aGg>aAg	p.R3439K	ALMS1_ENST00000409009.1_Missense_Mutation_p.R3397K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3439					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGATCCATAGGAAGAAGACA	0.463																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(10315-10317)aGg>aAg		Alstrom syndrome 1							106.0	107.0	106.0					2																	73786204		1894	4121	6015	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73786204G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10316G>A	2.37:g.73786204G>A	ENSP00000264448:p.Arg3439Lys					ALMS1_ENST00000409009.1_Missense_Mutation_p.R3397K	p.R3439K	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			15	10427	+			3439					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.10316G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	3.152	-0.174015	0.06421	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06371	3.31;3.31	3.38	1.39	0.22231	.	1.917840	0.02399	N	0.080439	T	0.04770	0.0129	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26195	0.068;0.144;0.056	B;B;B	0.19391	0.025;0.025;0.021	T	0.37753	-0.9692	10	0.18276	T	0.48	.	3.6134	0.08069	0.1457:0.0:0.5102:0.344	.	3439;3397;3439	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	K	3397;3439	ENSP00000386627:R3397K;ENSP00000264448:R3439K	ENSP00000264448:R3439K	R	+	2	0	ALMS1	73639712	0.001000	0.12720	0.017000	0.16124	0.753000	0.42808	-0.511000	0.06321	0.353000	0.24079	0.460000	0.39030	AGG		0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		33	209	0	0	0	1	0	33	209				
MYO5A	4644	broad.mit.edu	37	15	52672018	52672018	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:52672018C>T	ENST00000399231.3	-	17	2343		c.e17+1		MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCAGGCTCACCGTGAGGGGA	0.453																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e17+1		myosin VA (heavy chain 12, myoxin)							105.0	108.0	107.0					15																	52672018		1920	4133	6053	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672018C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2099+1G>A	15.37:g.52672018C>T						MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site		NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2343	-								A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37		CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385741	0.82792	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	4.99	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1161	0.72404	0.0:0.8581:0.1419:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5A	50459310	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.818000	0.86416	2.464000	0.83262	0.650000	0.86243	.		0.453	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	Intron	82	485	0	0	0	1	0	82	485				
RAG1	5896	broad.mit.edu	37	11	36595176	36595176	+	Nonsense_Mutation	SNP	C	C	T	rs193922464		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36595176C>T	ENST00000299440.5	+	2	434	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	108	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCCAACCTTCGACATCTCTG	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(322-324)Cga>Tga		recombination activating gene 1		C	stop/ARG	0,4404		0,0,2202	109.0	104.0	106.0		322	3.2	0.7	11		106	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained	RAG1	NM_000448.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		108/1044	36595176	1,12999	2202	4298	6500	SO:0001587	stop_gained	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595176C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.322C>T	11.37:g.36595176C>T	ENSP00000299440:p.Arg108*						p.R108*	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	434	+	all_lung(20;0.226)	all_hematologic(20;0.107)	108			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	c.322C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280336	0.59758	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	6.14	3.2	0.36748	.	0.352416	0.29522	N	0.011917	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.0601	0.42270	0.3752:0.5616:0.0:0.0632	.	.	.	.	X	108	.	ENSP00000299440:R108X	R	+	1	2	RAG1	36551752	.	.	0.743000	0.31040	0.340000	0.28889	.	.	0.439000	0.26476	-0.156000	0.13503	CGA		0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		172	256	0	0	0	1	0	172	256				
ALMS1	7840	broad.mit.edu	37	2	73677777	73677777	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:73677777A>G	ENST00000264448.6	+	8	4231	c.4120A>G	c.(4120-4122)Act>Gct	p.T1374A	ALMS1_ENST00000377715.1_Missense_Mutation_p.T1374A|ALMS1_ENST00000409009.1_Missense_Mutation_p.T1332A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1374	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T1374A(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCACACCAACTGTAACCTC	0.443																																						ENST00000264448.6																			1	Substitution - Missense(1)	p.T1374A(1)	lung(1)	breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(4120-4122)Act>Gct		Alstrom syndrome 1							83.0	85.0	85.0					2																	73677777		1864	4096	5960	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677777A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4120A>G	2.37:g.73677777A>G	ENSP00000264448:p.Thr1374Ala					ALMS1_ENST00000409009.1_Missense_Mutation_p.T1332A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1374A	p.T1374A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	4231	+			1374			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4120A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784251	0.31593	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14391	3.41;3.41;2.51	3.23	-0.789	0.10935	.	.	.	.	.	T	0.07683	0.0193	L	0.28192	0.835	0.09310	N	1	B;P;P	0.37955	0.008;0.612;0.612	B;B;B	0.34590	0.01;0.186;0.186	T	0.28138	-1.0053	9	0.42905	T	0.14	.	4.312	0.10976	0.4675:0.4132:0.1194:0.0	.	1374;1332;1374	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	A	1332;1374;1374	ENSP00000386627:T1332A;ENSP00000264448:T1374A;ENSP00000366944:T1374A	ENSP00000264448:T1374A	T	+	1	0	ALMS1	73531285	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.389000	0.02530	-0.146000	0.11274	0.459000	0.35465	ACT		0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	563	0	0	0	1	0	5	563				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	492	0	0	0	1	0	8	492				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (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; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	p.R175H	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)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		86	114	0	0	0	1	0	86	114				
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A	rs562134831	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000366827.2_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		5	107	0	0	0	1	0	5	107				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																0							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		9	191	0	0	0	1	0	9	191				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	525	0	0	0	1	0	7	525				
LOC101927648	101927648	broad.mit.edu	37	1	143403563	143403563	+	lincRNA	SNP	C	C	A	rs376564211		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453																																						ENST00000423249.1																			0																																																			0							g.chr1:143403563C>A																													1.37:g.143403563C>A														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.453	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			4	75	1	0	0.0215528	1	0.0216605	4	75				
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	rs560665036		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4354-4356)Cgc>Tgc		otoferlin							52.0	48.0	49.0					2																	26689975		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689975G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4354C>T	2.37:g.26689975G>A	ENSP00000272371:p.Arg1452Cys					OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C	p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1452					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4354C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597730	0.46318	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	4.69	-0.734	0.11140	.	0.045494	0.85682	D	0.000000	T	0.68504	0.3008	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.33171	0.397;0.026;0.4;0.026	B;B;B;B	0.20955	0.013;0.032;0.03;0.032	T	0.66172	-0.5990	10	0.59425	D	0.04	-20.9378	14.53	0.67917	0.0:0.0:0.3367:0.6633	.	1452;685;762;685	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	685;685;762;1452;1452	ENSP00000345137:R685C;ENSP00000344521:R685C;ENSP00000383906:R762C;ENSP00000272371:R1452C;ENSP00000385255:R1452C	ENSP00000272371:R1452C	R	-	1	0	OTOF	26543479	0.984000	0.35163	0.971000	0.41717	0.920000	0.55202	0.944000	0.29043	0.077000	0.16863	0.561000	0.74099	CGC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			31	211	0	0	0	1	0	31	211				
GNPAT	8443	broad.mit.edu	37	1	231396259	231396259	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:231396259A>G	ENST00000366647.4	+	3	437	c.268A>G	c.(268-270)Aag>Gag	p.K90E	GNPAT_ENST00000366646.3_Missense_Mutation_p.K29E	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	90					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTAGCTTTCCAAGGAATCCCT	0.403																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(268-270)Aag>Gag		glyceronephosphate O-acyltransferase							148.0	154.0	152.0					1																	231396259		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231396259A>G	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.268A>G	1.37:g.231396259A>G	ENSP00000355607:p.Lys90Glu					GNPAT_ENST00000366646.3_Missense_Mutation_p.K29E	p.K90E	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			3	437	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	90					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.268A>G	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945441	0.34377	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.86030	-2.06;-0.05;-0.09;-0.01	5.74	3.38	0.38709	.	0.558031	0.20199	N	0.097139	T	0.76814	0.4040	L	0.48642	1.525	0.37274	D	0.907512	B;B	0.22800	0.075;0.006	B;B	0.21360	0.034;0.011	T	0.65899	-0.6056	10	0.12430	T	0.62	.	8.2905	0.31954	0.7972:0.1342:0.0686:0.0	.	29;90	B4DNM9;O15228	.;GNPAT_HUMAN	E	29;90;29;90	ENSP00000402811:K29E;ENSP00000355607:K90E;ENSP00000355606:K29E;ENSP00000411640:K90E	ENSP00000355606:K29E	K	+	1	0	GNPAT	229462882	0.982000	0.34865	0.898000	0.35279	0.837000	0.47467	2.924000	0.48876	0.435000	0.26365	0.460000	0.39030	AAG		0.403	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			11	1181	0	0	0	1	0	11	1181				
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3979-3981)ggT>ggG		latrophilin 1							5.0	6.0	6.0					19																	14262129		2111	4119	6230	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262129A>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3981T>G	19.37:g.14262129A>C						CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G	p.G1327G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			24	4278	-			1327					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3981T>G	CCDS32928.1																																																																																				0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		11	54	0	0	0	1	0	11	54				
GPR133	283383	broad.mit.edu	37	12	131593364	131593364	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:131593364G>A	ENST00000261654.5	+	18	2542	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V|GPR133_ENST00000535015.1_Silent_p.V693V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	661					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCATGGTGATCAAGGTCT	0.612																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1981-1983)gtG>gtA		G protein-coupled receptor 133							176.0	160.0	166.0					12																	131593364		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593364G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1983G>A	12.37:g.131593364G>A						GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000376682.4_Silent_p.V347V|GPR133_ENST00000543617.1_Silent_p.V180V	p.V661V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2542	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		661					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1983G>A	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		303	227	0	0	0	1	0	303	227				
RP1L1	94137	broad.mit.edu	37	8	10465247	10465247	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:10465247T>C	ENST00000382483.3	-	4	6584	c.6361A>G	c.(6361-6363)Act>Gct	p.T2121A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2201	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCTTCAGTCTCTGGGGCC	0.622																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6361-6363)Act>Gct		retinitis pigmentosa 1-like 1							157.0	171.0	166.0					8																	10465247		1889	4094	5983	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465247T>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6361A>G	8.37:g.10465247T>C	ENSP00000371923:p.Thr2121Ala						p.T2121A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6584	-			2121					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6361A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	0.211	-1.036742	0.02013	.	.	ENSG00000183638	ENST00000382483	T	0.04758	3.56	1.62	-1.31	0.09230	.	.	.	.	.	T	0.01320	0.0043	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45352	-0.9267	9	0.06099	T	0.92	.	3.4342	0.07440	0.0:0.4695:0.2141:0.3164	.	2121	A6NKC6	.	A	2121	ENSP00000371923:T2121A	ENSP00000371923:T2121A	T	-	1	0	RP1L1	10502657	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-5.720000	0.00102	-0.477000	0.06832	-1.558000	0.00888	ACT		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	994	0	0	0	1	0	9	994				
SHKBP1	92799	broad.mit.edu	37	19	41083342	41083342	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:41083342G>A	ENST00000291842.5	+	3	230	c.181G>A	c.(181-183)Gga>Aga	p.G61R	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGACCGGAGCAGTGAG	0.607																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(181-183)Gga>Aga		SH3KBP1 binding protein 1							51.0	49.0	49.0					19																	41083342		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41083342G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.181G>A	19.37:g.41083342G>A	ENSP00000291842:p.Gly61Arg					SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	230	+			61			BTB.		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.181G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919628	0.92249	.	.	ENSG00000160410	ENST00000291842	T	0.50813	0.73	4.55	4.55	0.56014	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.79500	-0.1778	10	0.87932	D	0	-16.0636	16.1242	0.81382	0.0:0.0:1.0:0.0	.	61;61;61	Q8TBC3-2;B2R6W9;Q8TBC3	.;.;SHKB1_HUMAN	R	61	ENSP00000291842:G61R	ENSP00000291842:G61R	G	+	1	0	SHKBP1	45775182	1.000000	0.71417	0.985000	0.45067	0.646000	0.38490	8.296000	0.89940	2.113000	0.64589	0.306000	0.20318	GGA		0.607	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		5	284	0	0	0	1	0	5	284				
PCDH11X	27328	broad.mit.edu	37	X	91132649	91132649	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000504220.2_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1408-1410)ttC>ttT		protocadherin 11 X-linked							63.0	57.0	59.0					X																	91132649		2203	4298	6501	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132649C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1410C>T	X.37:g.91132649C>T						PCDH11X_ENST00000504220.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F	p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2255	+			470			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.1410C>T	CCDS14461.1																																																																																				0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		156	72	0	0	0	1	0	156	72				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	174	0	0	0	1	0	5	174				
SLC12A5	57468	broad.mit.edu	37	20	44685548	44685548	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:44685548C>T	ENST00000454036.2	+	24	3241	c.3192C>T	c.(3190-3192)aaC>aaT	p.N1064N	SLC12A5_ENST00000243964.3_Silent_p.N1041N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1064					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTGGGAGAACTTGTAAGTGC	0.493																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3190-3192)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						171.0	161.0	165.0					20																	44685548		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685548C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3192C>T	20.37:g.44685548C>T						SLC12A5_ENST00000243964.3_Silent_p.N1041N	p.N1064N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			24	3268	+		Myeloproliferative disorder(115;0.0122)	1064					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.3192C>T	CCDS46610.1																																																																																				0.493	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			59	401	0	0	0	1	0	59	401				
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1396-1398)aCa>aAa		zinc finger protein 479							61.0	62.0	61.0					7																	57187725		2091	4234	6325	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187725G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1397C>A	7.37:g.57187725G>T	ENSP00000333776:p.Thr466Lys						p.T466K	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1667	-			466						Missense_Mutation	SNP	ENST00000331162.4	37	c.1397C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.806322	0.00074	.	.	ENSG00000185177	ENST00000331162	T	0.20738	2.05	0.955	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35699	-0.9778	9	0.02654	T	1	.	5.6195	0.17450	0.0:0.0:0.5844:0.4156	.	466	Q96JC4	ZN479_HUMAN	K	466	ENSP00000333776:T466K	ENSP00000333776:T466K	T	-	2	0	ZNF479	57191667	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.024000	0.03603	-0.948000	0.03668	-0.940000	0.02684	ACA		0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		7	529	1	0	1.58986e-06	1	1.64723e-06	7	529				
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus (GO:0005634)		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557																																						ENST00000373695.1																			2	Substitution - Missense(2)	p.S258N(2)	endometrium(2)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(772-774)aGc>aAc		acidic repeat containing							19.0	18.0	19.0					X																	70823900		1511	3123	4634	SO:0001583	missense	93953					nucleus		g.chrX:70823900G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.773G>A	X.37:g.70823900G>A	ENSP00000362799:p.Ser258Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S258N	p.S258N			Q96QF7	ACRC_HUMAN			7	1310	+	Renal(35;0.156)		258			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.773G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.390008	0.01185	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32023	1.47;1.47	0.14	-0.28	0.12886	.	.	.	.	.	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.14656	T	0.56	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	258	Q96QF7	ACRC_HUMAN	N	258	ENSP00000362800:S258N;ENSP00000362799:S258N	ENSP00000362799:S258N	S	+	2	0	ACRC	70740625	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.205000	0.09411	-1.206000	0.02641	-1.198000	0.01671	AGC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			5	291	0	0	0	1	0	5	291				
TRIM49C	642612	broad.mit.edu	37	11	89774448	89774448	+	Silent	SNP	G	G	A	rs77759231	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:89774448G>A	ENST00000448984.1	+	8	1418	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						TGTATCGGAAGGAGAAGAATC	0.453													N|||	2316	0.46246	0.5265	0.5058	5008	,	,		16455	0.4603		0.3519	False		,,,				2504	0.4611					ENST00000448984.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(1087-1089)aaG>aaA		tripartite motif containing 49C																																				SO:0001819	synonymous_variant	642612					intracellular	zinc ion binding	g.chr11:89774448G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1089G>A	11.37:g.89774448G>A						TRIM49C_ENST00000432771.1_Intron	p.K363K	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1418	+			363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000448984.1	37	c.1089G>A	CCDS53694.1																																																																																				0.453	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		4	148	0	0	0	1	0	4	148				
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1477-1479)Gtg>Atg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							187.0	182.0	183.0					3																	143100949		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100949C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1477G>A	3.37:g.143100949C>T	ENSP00000320246:p.Val493Met					SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			13	1685	-			493					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1477G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		0.438	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		194	657	0	0	0	1	0	194	657				
PIWIL1	9271	broad.mit.edu	37	12	130834500	130834500	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:130834500A>C	ENST00000245255.3	+	9	1304	c.1032A>C	c.(1030-1032)gaA>gaC	p.E344D		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	344	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTTCTTAGAATACTACAGGA	0.408																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1030-1032)gaA>gaC		piwi-like RNA-mediated gene silencing 1							68.0	70.0	69.0					12																	130834500		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130834500A>C	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1032A>C	12.37:g.130834500A>C	ENSP00000245255:p.Glu344Asp						p.E344D	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	9	1304	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		344			PAZ.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1032A>C	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.305086	0.01353	.	.	ENSG00000125207	ENST00000245255	T	0.09350	2.99	5.72	1.18	0.20946	Argonaute/Dicer protein, PAZ (4);	0.247105	0.46442	N	0.000299	T	0.03434	0.0099	N	0.11023	0.085	0.43130	D	0.994864	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41395	-0.9511	10	0.02654	T	1	-14.9712	3.2572	0.06836	0.179:0.2999:0.4141:0.1069	.	344;344	Q96J94;Q96J94-2	PIWL1_HUMAN;.	D	344	ENSP00000245255:E344D	ENSP00000245255:E344D	E	+	3	2	PIWIL1	129400453	0.921000	0.31238	1.000000	0.80357	0.089000	0.18198	0.041000	0.13927	0.254000	0.21573	-0.468000	0.05107	GAA		0.408	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			47	214	0	0	0	1	0	47	214				
LRRC7	57554	broad.mit.edu	37	1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70257750C>T	ENST00000035383.5	+	2	244	c.214C>T	c.(214-216)Cga>Tga	p.R72*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R77*|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R72G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAGCTCTACGAAAACTAAG	0.294																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.R72G(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(229-231)Cga>Tga		leucine rich repeat containing 7							95.0	103.0	100.0					1																	70257750		2202	4295	6497	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257750C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.214C>T	1.37:g.70257750C>T	ENSP00000035383:p.Arg72*					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72*	p.R77*			Q96NW7	LRRC7_HUMAN			5	647	+			72					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.229C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592986	0.97688	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.68	2.7	0.31948	.	0.148908	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3006	0.60324	0.4547:0.5453:0.0:0.0	.	.	.	.	X	77;110;72;72	.	ENSP00000035383:R72X	R	+	1	2	LRRC7	70030338	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.305000	0.43664	0.277000	0.22141	0.561000	0.74099	CGA		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		97	400	0	0	0	1	0	97	400				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		9	617	0	0	0	1	0	9	617				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					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)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	349	0	0	0	1	0	10	349				
ABCG8	64241	broad.mit.edu	37	2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T	rs202028007		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGCCGCCGCGGCCCTGCTC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16315	0.001		0.0	False		,,,				2504	0.0					ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1648-1650)gCg>gTg		ATP-binding cassette, sub-family G (WHITE), member 8							67.0	66.0	66.0					2																	44102445		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102445C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1649C>T	2.37:g.44102445C>T	ENSP00000272286:p.Ala550Val						p.A550V	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			11	1739	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	550			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1649C>T	CCDS1815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.22	2.768002	0.49680	.	.	ENSG00000143921	ENST00000272286	T	0.74947	-0.89	4.73	3.85	0.44370	ABC-2 type transporter (1);	0.167185	0.52532	D	0.000066	T	0.81650	0.4867	M	0.65975	2.015	0.22968	N	0.998499	D;D	0.71674	0.998;0.998	P;P	0.61658	0.827;0.892	T	0.73528	-0.3954	10	0.42905	T	0.14	.	12.9331	0.58299	0.0:0.9209:0.0:0.0791	.	549;550	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	550	ENSP00000272286:A550V	ENSP00000272286:A550V	A	+	2	0	ABCG8	43955949	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	5.484000	0.66844	0.984000	0.38629	0.462000	0.41574	GCG		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		120	279	0	0	0	1	0	120	279				
PFKFB4	5210	broad.mit.edu	37	3	48563059	48563059	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48563059T>A	ENST00000232375.3	-	10	1143	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	344	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCAGTGGATAATTATCCTG	0.557																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1030-1032)tAt>tTt		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							76.0	66.0	69.0					3																	48563059		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48563059T>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1031A>T	3.37:g.48563059T>A	ENSP00000232375:p.Tyr344Phe					PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000490115.1_5'UTR	p.Y344F	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	10	1143	-			344			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1031A>T	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822425	0.32237	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.252467	0.41097	D	0.000943	T	0.48960	0.1529	N	0.12663	0.25	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17722	0.019;0.001;0.017	T	0.44787	-0.9305	10	0.37606	T	0.19	-5.5052	7.0254	0.24936	0.2025:0.0:0.0:0.7974	.	333;337;344	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	F	344;333;337;310	ENSP00000232375:Y344F;ENSP00000438908:Y333F;ENSP00000388394:Y337F;ENSP00000437446:Y310F	ENSP00000232375:Y344F	Y	-	2	0	PFKFB4	48538063	0.498000	0.26075	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	1.844000	0.53588	0.383000	0.25322	TAT		0.557	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		35	108	0	0	0	1	0	35	108				
CADM2	253559	broad.mit.edu	37	3	85961592	85961592	+	Missense_Mutation	SNP	G	G	A	rs150681488		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:85961592G>A	ENST00000407528.2	+	5	634	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CADM2_ENST00000383699.3_Missense_Mutation_p.R200Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	191	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGGACTTCCGAGTGGACCGG	0.433																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(598-600)cGa>cAa		cell adhesion molecule 2		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	100.0	80.0	87.0		572,599,578	4.6	1.0	3	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	191/436,200/405,193/438	85961592	1,13005	2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961592G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.572G>A	3.37:g.85961592G>A	ENSP00000384575:p.Arg191Gln					CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q	p.R200Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1226	+		Lung NSC(201;0.0148)	191			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.599G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020020	0.19433	0.0	1.16E-4	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76578	-1.03;-1.03;-1.03	5.5	4.62	0.57501	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.280225	0.38058	N	0.001838	T	0.43411	0.1246	N	0.01874	-0.695	0.32061	N	0.595716	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.08055	0.002;0.002;0.003	T	0.49606	-0.8922	10	0.07030	T	0.85	.	3.7449	0.08544	0.2201:0.0:0.5739:0.206	.	193;200;191	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	200;191;193	ENSP00000373200:R200Q;ENSP00000384575:R191Q;ENSP00000384193:R193Q	ENSP00000373200:R200Q	R	+	2	0	CADM2	86044282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.202000	0.58446	2.583000	0.87209	0.591000	0.81541	CGA		0.433	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		94	193	0	0	0	1	0	94	193				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			8	596	0	0	0	1	0	8	596				
COL11A1	1301	broad.mit.edu	37	1	103400665	103400665	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:103400665G>C	ENST00000370096.3	-	45	3755	c.3443C>G	c.(3442-3444)cCt>cGt	p.P1148R	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1160R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1148	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGACCGGGAGGGCCCTGCAG	0.448																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3478-3480)cCt>cGt		collagen, type XI, alpha 1							30.0	32.0	31.0					1																	103400665		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400665G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3443C>G	1.37:g.103400665G>C	ENSP00000359114:p.Pro1148Arg					COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R	p.P1160R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	45	3796	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1148			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3479C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171191	0.57584	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.967;0.999;0.997;0.997	D	0.99935	1.1349	10	0.87932	D	0	.	19.4476	0.94854	0.0:0.0:1.0:0.0	.	1032;1109;1160;1148;368	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1148;1160;1109;368;1032	ENSP00000359114:P1148R;ENSP00000351163:P1160R;ENSP00000302551:P1109R;ENSP00000426533:P1032R	ENSP00000302551:P1109R	P	-	2	0	COL11A1	103173253	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.813000	0.99286	2.588000	0.87417	0.655000	0.94253	CCT		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		32	99	0	0	0	1	0	32	99				
KCNA1	3736	broad.mit.edu	37	12	5021899	5021899	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:5021899C>A	ENST00000382545.3	+	2	2462	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	452				S -> Y (in Ref. 1; AAA36139). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ATGAGCAAGTCTGAGTACATG	0.483																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1354-1356)tCt>tAt		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						200.0	195.0	196.0					12																	5021899		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021899C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1355C>A	12.37:g.5021899C>A	ENSP00000371985:p.Ser452Tyr					KCNA1_ENST00000543874.2_Intron	p.S452Y	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	2462	+			452	S -> Y (in Ref. 1; AAA36139).				A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1355C>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790696	0.70452	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96716	-4.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.87269	2.87	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	D	0.98623	1.0668	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	452	Q09470	KCNA1_HUMAN	Y	452	ENSP00000371985:S452Y	ENSP00000228858:S452Y	S	+	2	0	KCNA1	4892160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	TCT		0.483	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		180	1115	1	0	2.18299e-53	1	2.41089e-53	180	1115				
TMEM132E	124842	broad.mit.edu	37	17	32953262	32953262	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:32953262C>T	ENST00000321639.5	+	2	512	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	62						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGAGGCGCGGCCCCCGTC	0.731																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(184-186)Cgg>Tgg		transmembrane protein 132E							10.0	11.0	11.0					17																	32953262		2174	4249	6423	SO:0001583	missense	124842					integral to membrane		g.chr17:32953262C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.184C>T	17.37:g.32953262C>T	ENSP00000316532:p.Arg62Trp						p.R62W	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	512	+			62					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.184C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387866	0.61956	.	.	ENSG00000181291	ENST00000321639	T	0.11495	2.77	4.82	3.81	0.43845	.	0.445588	0.24391	N	0.038924	T	0.09512	0.0234	N	0.19112	0.55	0.21020	N	0.999805	D	0.60160	0.987	P	0.47705	0.555	T	0.11108	-1.0601	10	0.66056	D	0.02	-27.4389	8.5268	0.33309	0.1556:0.5772:0.2672:0.0	.	62	Q6IEE7	T132E_HUMAN	W	62	ENSP00000316532:R62W	ENSP00000316532:R62W	R	+	1	2	TMEM132E	29977375	0.834000	0.29399	0.889000	0.34880	0.942000	0.58702	1.415000	0.34748	0.913000	0.36797	0.478000	0.44815	CGG		0.731	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		8	39	0	0	0	1	0	8	39				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q			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_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q179Q	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		6	286	0	0	0	1	0	6	286				
PTPN21	11099	broad.mit.edu	37	14	89016677	89016677	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:89016677G>A	ENST00000556564.1	-	2	369	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.3_ENST00000556328.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	29	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						TTATTAAGCAGTTGGATCCGG	0.567																																						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.(85-87)Ctg>Ttg		protein tyrosine phosphatase, non-receptor type 21							120.0	115.0	116.0					14																	89016677		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016677G>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.85C>T	14.37:g.89016677G>A						PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR	p.L29L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			2	369	-			29			FERM.			Silent	SNP	ENST00000556564.1	37	c.85C>T	CCDS9884.1																																																																																				0.567	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			87	351	0	0	0	1	0	87	351				
ARL14EP	120534	broad.mit.edu	37	11	30358266	30358266	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:30358266G>A	ENST00000282032.3	+	4	922	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	236	Cys-rich.					cytoplasm (GO:0005737)											GCTGAATGCCGCTGTGACCGC	0.458																																						ENST00000282032.3																			0											c.(706-708)cGc>cAc		ADP-ribosylation factor-like 14 effector protein							188.0	159.0	168.0					11																	30358266		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30358266G>A	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.707G>A	11.37:g.30358266G>A	ENSP00000282032:p.Arg236His						p.R236H	NM_152316.1	NP_689529.1					4	922	+								Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.707G>A	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446787	0.96205	.	.	ENSG00000152219	ENST00000282032	T	0.73363	-0.74	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.88492	0.3076	10	0.87932	D	0	-36.2645	19.571	0.95419	0.0:0.0:1.0:0.0	.	236	Q8N8R7	CK046_HUMAN	H	236	ENSP00000282032:R236H	ENSP00000282032:R236H	R	+	2	0	C11orf46	30314842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.709000	0.92574	0.655000	0.94253	CGC		0.458	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		6	623	0	0	0	1	0	6	623				
NKX2-4	644524	broad.mit.edu	37	20	21376877	21376877	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:21376877C>T	ENST00000351817.4	-	2	1365	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	246					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CTTGGCCTGCCGTTTCATCTT	0.711																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(736-738)cGg>cAg		NK2 homeobox 4							33.0	32.0	32.0					20																	21376877		2203	4300	6503	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376877C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.737G>A	20.37:g.21376877C>T	ENSP00000345147:p.Arg246Gln						p.R246Q	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			2	1365	-			246					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.737G>A	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394647	0.83011	.	.	ENSG00000125816	ENST00000351817	D	0.96396	-4.0	3.49	3.49	0.39957	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	U	0.000036	D	0.97885	0.9305	M	0.84156	2.68	0.58432	D	0.999993	D	0.69078	0.997	D	0.72982	0.979	D	0.98753	1.0721	10	0.87932	D	0	.	14.7591	0.69593	0.0:1.0:0.0:0.0	.	246	Q9H2Z4	NKX24_HUMAN	Q	246	ENSP00000345147:R246Q	ENSP00000345147:R246Q	R	-	2	0	NKX2-4	21324877	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	7.095000	0.76952	1.781000	0.52344	0.484000	0.47621	CGG		0.711	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			12	72	0	0	0	1	0	12	72				
KIF14	9928	broad.mit.edu	37	1	200539058	200539058	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:200539058C>G	ENST00000367350.4	-	23	4080	c.3642G>C	c.(3640-3642)ttG>ttC	p.L1214F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1214	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTGAAGAATGCAAATTCTTAA	0.338																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(3640-3642)ttG>ttC		kinesin family member 14							136.0	132.0	133.0					1																	200539058		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200539058C>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3642G>C	1.37:g.200539058C>G	ENSP00000356319:p.Leu1214Phe						p.L1214F	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			23	4080	-			1214			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3642G>C	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143132	0.57044	.	.	ENSG00000118193	ENST00000367350	T	0.17854	2.25	5.68	0.371	0.16168	.	0.710335	0.12990	N	0.422570	T	0.23094	0.0558	L	0.59436	1.845	0.09310	N	1	D	0.59767	0.986	P	0.54060	0.741	T	0.09840	-1.0656	10	0.56958	D	0.05	.	3.9597	0.09405	0.161:0.3754:0.0:0.4637	.	1214	Q15058	KIF14_HUMAN	F	1214	ENSP00000356319:L1214F	ENSP00000356319:L1214F	L	-	3	2	KIF14	198805681	0.000000	0.05858	0.002000	0.10522	0.984000	0.73092	-0.055000	0.11807	0.286000	0.22352	0.591000	0.81541	TTG		0.338	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		5	543	0	0	0	1	0	5	543				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		12	1495	0	0	0	1	0	12	1495				
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662													a|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001					ENST00000380095.1																			1	Substitution - Missense(1)	p.T55A(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(163-165)Acg>Gcg		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057497		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057497A>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.163A>G	21.37:g.46057497A>G	ENSP00000369438:p.Thr55Ala					TSPEAR_ENST00000323084.4_Intron	p.T55A	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	225	+			55			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.163A>G	CCDS33585.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	0.001	-3.777528	0.00004	.	.	ENSG00000221859	ENST00000380095	T	0.00976	5.48	1.05	-1.25	0.09405	.	.	.	.	.	T	0.00356	0.0011	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.9159	0.09222	0.1957:0.4879:0.3163:0.0	rs377408	55	P60014	KR10A_HUMAN	A	55	ENSP00000369438:T55A	ENSP00000369438:T55A	T	+	1	0	KRTAP10-10	44881925	0.000000	0.05858	0.062000	0.19696	0.039000	0.13416	0.043000	0.13971	-0.506000	0.06558	-0.741000	0.03529	ACG		0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		8	484	0	0	0	1	0	8	484				
PRRC2C	23215	broad.mit.edu	37	1	171509737	171509737	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:171509737C>T	ENST00000338920.4	+	16	3363	c.3126C>T	c.(3124-3126)gtC>gtT	p.V1042V	PRRC2C_ENST00000367742.3_Silent_p.V1044V|PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1042					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CCGAAAAGGTCACTGAAAAAG	0.468																																						ENST00000367742.3																			0											c.(3130-3132)gtC>gtT		proline-rich coiled-coil 2C							97.0	96.0	97.0					1																	171509737		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509737C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3126C>T	1.37:g.171509737C>T						PRRC2C_ENST00000338920.4_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000426496.2_Silent_p.V1042V	p.V1044V			Q9Y520	PRC2C_HUMAN			16	3374	+			1042					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3132C>T	CCDS1296.2																																																																																				0.468	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		146	222	0	0	0	1	0	146	222				
CELSR3	1951	broad.mit.edu	37	3	48688878	48688878	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48688878T>A	ENST00000164024.4	-	14	6380	c.6100A>T	c.(6100-6102)Agc>Tgc	p.S2034C	CELSR3_ENST00000544264.1_Missense_Mutation_p.S2034C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2034	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGTTGGGCTCCCCCACCAG	0.617																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6100-6102)Agc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 3							83.0	84.0	84.0					3																	48688878		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48688878T>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6100A>T	3.37:g.48688878T>A	ENSP00000164024:p.Ser2034Cys					CELSR3_ENST00000164024.4_Missense_Mutation_p.S2034C	p.S2034C			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	14	6380	-			2034			EGF-like 7; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6100A>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952489	0.73787	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70869	-0.52;-0.51	5.74	5.74	0.90152	.	.	.	.	.	T	0.76615	0.4012	L	0.50333	1.59	0.43667	D	0.996093	D;D	0.69078	0.997;0.997	P;P	0.55667	0.76;0.781	T	0.78339	-0.2242	9	0.56958	D	0.05	.	16.0382	0.80645	0.0:0.0:0.0:1.0	.	2034;2104	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2034	ENSP00000164024:S2034C;ENSP00000445694:S2034C	ENSP00000164024:S2034C	S	-	1	0	CELSR3	48663882	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.196000	0.51020	2.194000	0.70268	0.533000	0.62120	AGC		0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		48	212	0	0	0	1	0	48	212				
PHACTR1	221692	broad.mit.edu	37	6	13283751	13283751	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:13283751G>A	ENST00000379335.3	+	3	404	c.299G>A	c.(298-300)cGc>cAc	p.R100H	PHACTR1_ENST00000379329.1_Missense_Mutation_p.R100H|RP1-257A7.4_ENST00000606150.1_RNA|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R536H|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R391H			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	536					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GACTATGACCGCAGGGCAGAT	0.602																																						ENST00000332995.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1606-1608)cGc>cAc		phosphatase and actin regulator 1							84.0	96.0	92.0					6																	13283751		2074	4189	6263	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13283751G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.299G>A	6.37:g.13283751G>A	ENSP00000368639:p.Arg100His					PHACTR1_ENST00000379335.3_Missense_Mutation_p.R100H|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R100H|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R391H|RP1-257A7.4_ENST00000606150.1_RNA	p.R536H			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		11	1607	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	536					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379335.3	37	c.1607G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.291383|5.291383	0.95546|0.95546	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	.|T;T	.|0.79749	.|-1.3;-1.29	5.9|5.9	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90892|0.90892	0.7138|0.7138	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.93471|0.93471	0.6819|0.6819	5|10	.|0.87932	.|D	.|0	-14.1989|-14.1989	14.3521|14.3521	0.66711|0.66711	0.0709:0.0:0.9291:0.0|0.0709:0.0:0.9291:0.0	.|.	.|536	.|Q9C0D0	.|PHAR1_HUMAN	T|H	371|536;391;100;100	.|ENSP00000329880:R536H;ENSP00000397669:R391H	.|ENSP00000329880:R536H	A|R	+|+	1|2	0|0	PHACTR1|PHACTR1	13391730|13391730	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	1.503000|1.503000	0.48686|0.48686	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.602	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420		6	430	0	0	0	1	0	6	430				
COL4A2	1284	broad.mit.edu	37	13	111102671	111102671	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:111102671G>A	ENST00000360467.5	+	20	1515	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	403	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGGCCTGCCGGGTGAGATGG	0.632																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1207-1209)ccG>ccA		collagen, type IV, alpha 2							56.0	60.0	59.0					13																	111102671		1924	4136	6060	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111102671G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1209G>A	13.37:g.111102671G>A							p.P403P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		20	1515	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	403			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.1209G>A	CCDS41907.1																																																																																				0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		136	250	0	0	0	1	0	136	250				
SPEG	10290	broad.mit.edu	37	2	220312852	220312852	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:220312852C>T	ENST00000312358.7	+	4	1104	c.972C>T	c.(970-972)ccC>ccT	p.P324P	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.P220P|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	324	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCCGGGACCCCCGGCCCAGC	0.741																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(970-972)ccC>ccT		SPEG complex locus							7.0	9.0	9.0					2																	220312852		1777	3915	5692	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220312852C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.972C>T	2.37:g.220312852C>T						SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.P220P|SPEG_ENST00000485813.1_3'UTR	p.P324P	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	4	1104	+		Renal(207;0.0183)	324			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.972C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	1.345	-0.593148	0.03771	.	.	ENSG00000072195	ENST00000451076	T	0.52983	0.64	4.88	2.66	0.31614	.	0.396081	0.18545	N	0.138094	T	0.55862	0.1947	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.57201	-0.7852	7	0.51188	T	0.08	.	11.3844	0.49776	0.0:0.8203:0.0:0.1797	.	.	.	.	S	175	ENSP00000414549:P175S	ENSP00000414549:P175S	P	+	1	0	SPEG	220021096	0.022000	0.18835	0.400000	0.26346	0.336000	0.28762	1.035000	0.30216	1.025000	0.39708	0.655000	0.94253	CCC		0.741	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		5	58	0	0	0	1	0	5	58				
VPS13D	55187	broad.mit.edu	37	1	12364627	12364627	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12364627C>T	ENST00000358136.3	+	26	6411	c.6281C>T	c.(6280-6282)aCg>aTg	p.T2094M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGACAAGCACGGAGGAGCCC	0.522																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6280-6282)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							63.0	59.0	60.0					1																	12364627		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12364627C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6281C>T	1.37:g.12364627C>T	ENSP00000350854:p.Thr2094Met					VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	p.T2094M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	26	6411	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2094						Missense_Mutation	SNP	ENST00000358136.3	37	c.6281C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.278|3.278	-0.147578|-0.147578	0.06627|0.06627	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53206	.|0.63;0.64	5.94|5.94	1.31|1.31	0.21738|0.21738	.|.	.|1.074530	.|0.07029	.|N	.|0.828020	T|T	0.27798|0.27798	0.0684|0.0684	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.007;0.002	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.33940	.|T	.|0.23	.|.	8.7283|8.7283	0.34483|0.34483	0.0:0.6002:0.0:0.3998|0.0:0.6002:0.0:0.3998	.|.	.|2094;2094	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	W|M	917|2094	.|ENSP00000348666:T2094M;ENSP00000350854:T2094M	.|ENSP00000348666:T2094M	R|T	+|+	1|2	2|0	VPS13D|VPS13D	12287214|12287214	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.256000|0.256000	0.18351|0.18351	0.362000|0.362000	0.24319|0.24319	-0.224000|-0.224000	0.12420|0.12420	CGG|ACG		0.522	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		26	146	0	0	0	1	0	26	146				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	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			7	335	0	0	0	1	0	7	335				
FARP2	9855	broad.mit.edu	37	2	242312551	242312551	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242312551T>A	ENST00000264042.3	+	2	199	c.29T>A	c.(28-30)gTc>gAc	p.V10D	FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D|FARP2_ENST00000479427.1_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	10					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACATACAGAGTCCTGCAGACT	0.463																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(28-30)gTc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							57.0	59.0	58.0					2																	242312551		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242312551T>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.29T>A	2.37:g.242312551T>A	ENSP00000264042:p.Val10Asp					FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D	p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	2	199	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	10					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.29T>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876107	0.33162	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;D;D;T;T	0.83591	-1.11;-1.73;-1.74;-0.31;-1.13	5.65	-2.92	0.05615	.	0.515409	0.19294	N	0.117813	T	0.80737	0.4680	L	0.57536	1.79	0.27964	N	0.936655	P;P;P	0.46512	0.879;0.773;0.664	P;P;B	0.48270	0.572;0.572;0.235	T	0.76250	-0.3028	10	0.49607	T	0.09	.	11.2139	0.48815	0.0:0.4967:0.0:0.5033	.	10;10;10	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	10	ENSP00000264042:V10D;ENSP00000443876:V10D;ENSP00000362384:V10D;ENSP00000393376:V10D;ENSP00000388167:V10D	ENSP00000264042:V10D	V	+	2	0	FARP2	241961224	0.907000	0.30839	0.057000	0.19452	0.532000	0.34746	1.218000	0.32467	-0.815000	0.04346	0.460000	0.39030	GTC		0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			112	205	0	0	0	1	0	112	205				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	197	0	0	0	1	0	6	197				
ACRC	93953	broad.mit.edu	37	X	70823870	70823870	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:70823870G>A	ENST00000373695.1	+	7	1280	c.743G>A	c.(742-744)aGc>aAc	p.S248N	ACRC_ENST00000373696.3_Missense_Mutation_p.S248N			Q96QF7	ACRC_HUMAN	acidic repeat containing	248	Asp/Ser-rich.					nucleus (GO:0005634)		p.S248N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.552																																						ENST00000373695.1																			1	Substitution - Missense(1)	p.S248N(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(742-744)aGc>aAc		acidic repeat containing							91.0	83.0	85.0					X																	70823870		2200	4294	6494	SO:0001583	missense	93953					nucleus		g.chrX:70823870G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.743G>A	X.37:g.70823870G>A	ENSP00000362799:p.Ser248Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S248N	p.S248N			Q96QF7	ACRC_HUMAN			7	1280	+	Renal(35;0.156)		248			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.743G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.771453	0.00081	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30981	1.51;1.51	0.131	-0.261	0.12963	.	.	.	.	.	T	0.10252	0.0251	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	9	0.09084	T	0.74	.	4.764	0.13123	0.3342:0.0:0.6658:0.0	.	248	Q96QF7	ACRC_HUMAN	N	248	ENSP00000362800:S248N;ENSP00000362799:S248N	ENSP00000362799:S248N	S	+	2	0	ACRC	70740595	0.000000	0.05858	0.011000	0.14972	0.012000	0.07955	-3.046000	0.00630	-1.287000	0.02381	-1.280000	0.01385	AGC		0.552	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			5	417	0	0	0	1	0	5	417				
THSD7A	221981	broad.mit.edu	37	7	11464363	11464363	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:11464363G>A	ENST00000423059.4	-	16	3594	c.3343C>T	c.(3343-3345)Cgg>Tgg	p.R1115W	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1115	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGTTCTCCCGCATATTCACA	0.478										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3343-3345)Cgg>Tgg		thrombospondin, type I, domain containing 7A							222.0	208.0	213.0					7																	11464363		1983	4181	6164	SO:0001583	missense	221981					integral to membrane		g.chr7:11464363G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3343C>T	7.37:g.11464363G>A	ENSP00000406482:p.Arg1115Trp	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.R1115W	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	16	3594	-			1115			TSP type-1 11.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3343C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139020	0.77775	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59502	0.26	5.85	1.31	0.21738	.	0.209305	0.47852	D	0.000203	T	0.53012	0.1770	N	0.08118	0	0.34069	D	0.658195	D	0.57899	0.981	P	0.61003	0.882	T	0.68739	-0.5329	10	0.66056	D	0.02	.	15.5973	0.76595	0.0:0.0:0.2201:0.7798	.	1115	Q9UPZ6	THS7A_HUMAN	W	1115	ENSP00000406482:R1115W	ENSP00000262042:R1115W	R	-	1	2	THSD7A	11430888	0.975000	0.34042	0.963000	0.40424	0.992000	0.81027	1.743000	0.38258	0.307000	0.22880	0.655000	0.94253	CGG		0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		9	1393	0	0	0	1	0	9	1393				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	608	0	0	0	1	0	7	608				
KRTAP4-8	728224	broad.mit.edu	37	17	39254021	39254021	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:39254021C>T	ENST00000333822.4	-	1	372	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	106	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						cagctggacacacagcagctg	0.672																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(316-318)Gtg>Atg		keratin associated protein 4-8							5.0	7.0	6.0					17																	39254021		655	1529	2184	SO:0001583	missense	728224					keratin filament		g.chr17:39254021C>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.316G>A	17.37:g.39254021C>T	ENSP00000328444:p.Val106Met						p.V106M	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	372	-			106			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.316G>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.738646	0.49045	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00617	6.19	3.21	1.06	0.20224	.	1.219990	0.06472	U	0.731335	T	0.01489	0.0048	M	0.77616	2.38	0.09310	N	1	P	0.44309	0.832	B	0.43413	0.419	T	0.47971	-0.9075	10	0.49607	T	0.09	.	7.6941	0.28585	0.0:0.786:0.0:0.214	.	106	Q9BYQ9	KRA48_HUMAN	M	106;91	ENSP00000328444:V106M	ENSP00000414561:V91M	V	-	1	0	KRTAP4-8	36507547	0.000000	0.05858	0.001000	0.08648	0.988000	0.76386	-1.826000	0.01705	0.172000	0.19760	0.449000	0.29647	GTG		0.672	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	206	0	0	0	1	0	5	206				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	603	0	0	0	1	0	6	603				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		4	112	0	0	0	1	0	4	112				
COL15A1	1306	broad.mit.edu	37	9	101802811	101802811	+	Silent	SNP	C	C	T	rs146647282	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:101802811C>T	ENST00000375001.3	+	23	2907	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	828	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGGCCGGACGGGTTGCCTG	0.587																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2482-2484)gaC>gaT		collagen, type XV, alpha 1		C		0,4406		0,0,2203	179.0	155.0	163.0		2484	-5.3	0.0	9	dbSNP_134	163	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	COL15A1	NM_001855.3		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		828/1389	101802811	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101802811C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2484C>T	9.37:g.101802811C>T							p.D828D	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			23	2907	+		Acute lymphoblastic leukemia(62;0.0562)	828			Triple-helical region 4 (COL4).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2484C>T	CCDS35081.1																																																																																				0.587	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		212	206	0	0	0	1	0	212	206				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		12	204	0	0	0	1	0	12	204				
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	rs201055589		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63.0	41.0	49.0					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	414	0	0	0	1	0	6	414				
LRRC7	57554	broad.mit.edu	37	1	70541973	70541973	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70541973C>A	ENST00000035383.5	+	22	4360	c.4330C>A	c.(4330-4332)Cca>Aca	p.P1444T	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1402T|LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1444						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATGGATATCCAGAGCAGGT	0.463																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4204-4206)Cca>Aca		leucine rich repeat containing 7							60.0	61.0	60.0					1																	70541973		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541973C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4330C>A	1.37:g.70541973C>A	ENSP00000035383:p.Pro1444Thr					LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T	p.P1402T			Q96NW7	LRRC7_HUMAN			24	4622	+			1444					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4204C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575374	0.65878	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36520	1.25;1.31;2.41	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.129386	0.53938	D	0.000049	T	0.20414	0.0491	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.44429	0.787;0.835;0.608	B;P;B	0.47645	0.372;0.553;0.18	T	0.04930	-1.0917	10	0.37606	T	0.19	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	728;1397;1444	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1402;1444;728;1220	ENSP00000309245:P1402T;ENSP00000035383:P1444T;ENSP00000394867:P728T	ENSP00000035383:P1444T	P	+	1	0	LRRC7	70314561	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.176000	0.71955	2.937000	0.99478	0.650000	0.86243	CCA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		58	199	1	0	1.17673e-23	1	1.27163e-23	58	199				
ZNF407	55628	broad.mit.edu	37	18	72346823	72346823	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:72346823A>G	ENST00000299687.5	+	1	3848	c.3848A>G	c.(3847-3849)aAc>aGc	p.N1283S	ZNF407_ENST00000309902.6_Missense_Mutation_p.N1283S|ZNF407_ENST00000582337.1_Missense_Mutation_p.N1283S|ZNF407_ENST00000577538.1_Missense_Mutation_p.N1283S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGGGTCAGAACAGAGTTGCA	0.507																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(3847-3849)aAc>aGc		zinc finger protein 407							24.0	28.0	27.0					18																	72346823		1902	4118	6020	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346823A>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3848A>G	18.37:g.72346823A>G	ENSP00000299687:p.Asn1283Ser					ZNF407_ENST00000309902.6_Missense_Mutation_p.N1283S|ZNF407_ENST00000582337.1_Missense_Mutation_p.N1283S|ZNF407_ENST00000577538.1_Missense_Mutation_p.N1283S	p.N1283S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3848	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1283					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.3848A>G	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296517	0.23650	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09911	2.93;3.36	4.94	-0.315	0.12746	.	1.351640	0.04216	N	0.332561	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14012	0.009;0.003;0.002	B;B;B	0.10450	0.005;0.005;0.002	T	0.35574	-0.9783	10	0.09084	T	0.74	.	10.2324	0.43262	0.5626:0.0:0.4374:0.0	.	1283;1283;1283	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	1283	ENSP00000299687:N1283S;ENSP00000310359:N1283S	ENSP00000299687:N1283S	N	+	2	0	ZNF407	70475811	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.515000	0.22801	0.605000	0.29947	-1.082000	0.02213	AAC		0.507	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		3	62	0	0	0	1	0	3	62				
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483													.|||	520	0.103834	0.1944	0.1297	5008	,	,		8025	0.0357		0.0726	False		,,,				2504	0.0654					ENST00000342960.5																			1	Substitution - Missense(1)	p.C3017S(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)Tgt>Agt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359109T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9049T>A	1.37:g.145359109T>A	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9084	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9049T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481396	0.00163	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00412	0.0013	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.44205	-0.9343	5	0.02654	T	1	.	.	.	.	rs3967942	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	1	0	NBPF10	144070466	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.392000	0.07314	-0.792000	0.04480	0.128000	0.15822	TGT		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	560	0	0	0	1	0	6	560				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	4	112	0	0	0	1	0	4	112				
BFSP2	8419	broad.mit.edu	37	3	133119141	133119141	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133119141C>T	ENST00000302334.2	+	1	303	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	72	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTGGGTGCCCGTGTGACCCG	0.667																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(214-216)Cgt>Tgt		beaded filament structural protein 2, phakinin							45.0	51.0	49.0					3																	133119141		2203	4299	6502	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119141C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.214C>T	3.37:g.133119141C>T	ENSP00000304987:p.Arg72Cys						p.R72C	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	303	+			72			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.214C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344701	0.95807	.	.	ENSG00000170819	ENST00000302334	D	0.84223	-1.82	5.95	5.95	0.96441	.	0.205916	0.34507	N	0.003911	D	0.90752	0.7097	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.60173	0.87	D	0.88493	0.3077	10	0.35671	T	0.21	-9.7541	20.3789	0.98926	0.0:1.0:0.0:0.0	.	72	Q13515	BFSP2_HUMAN	C	72	ENSP00000304987:R72C	ENSP00000304987:R72C	R	+	1	0	BFSP2	134601831	1.000000	0.71417	0.933000	0.37362	0.992000	0.81027	6.977000	0.76141	2.826000	0.97356	0.563000	0.77884	CGT		0.667	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			102	301	0	0	0	1	0	102	301				
GRIA1	2890	broad.mit.edu	37	5	153026597	153026597	+	Silent	SNP	G	G	A	rs370782311		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:153026597G>A	ENST00000285900.5	+	3	673	c.330G>A	c.(328-330)acG>acA	p.T110T	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000448073.4_Silent_p.T120T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.T110T(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCTTCATTACGCCGAGCTTTC	0.498																																						ENST00000285900.5																			2	Substitution - coding silent(2)	p.T110T(2)	endometrium(2)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(328-330)acG>acA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	,	1,4405		0,1,2202	169.0	154.0	159.0		330,330	-8.9	0.0	5		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	110/907,110/907	153026597	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026597G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.330G>A	5.37:g.153026597G>A						GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518142.1_Intron	p.T110T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	673	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	110					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.330G>A	CCDS4322.1																																																																																				0.498	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			108	333	0	0	0	1	0	108	333				
OR2M4	26245	broad.mit.edu	37	1	248403055	248403055	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248403055G>A	ENST00000306687.1	+	1	825	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	275					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			AGATGGTGTCGGCCTTCTACA	0.488																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(823-825)tcG>tcA		olfactory receptor, family 2, subfamily M, member 4							122.0	105.0	111.0					1																	248403055		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403055G>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.825G>A	1.37:g.248403055G>A							p.S275S	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	825	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		275					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.825G>A	CCDS31108.1																																																																																				0.488	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		65	385	0	0	0	1	0	65	385				
CELSR1	9620	broad.mit.edu	37	22	46931761	46931761	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:46931761G>C	ENST00000262738.3	-	1	1306	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	436	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCCCGGATTGCGCCC	0.667																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1306-1308)cCg>cGg		cadherin, EGF LAG seven-pass G-type receptor 1							45.0	28.0	34.0					22																	46931761		2202	4294	6496	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931761G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1307C>G	22.37:g.46931761G>C	ENSP00000262738:p.Pro436Arg					CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R	p.P436R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1306	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	436			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1307C>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585708	0.46110	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.51574	0.7;0.7	4.65	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	U	0.000004	T	0.68072	0.2961	M	0.78637	2.42	0.39149	D	0.96218	D	0.89917	1.0	D	0.97110	1.0	T	0.74137	-0.3762	10	0.66056	D	0.02	.	13.7659	0.62995	0.0:0.0:0.8449:0.1551	.	436	Q9NYQ6	CELR1_HUMAN	R	436	ENSP00000262738:P436R;ENSP00000379293:P436R	ENSP00000262738:P436R	P	-	2	0	CELSR1	45310425	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	9.205000	0.95048	0.943000	0.37553	0.462000	0.41574	CCG		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		38	95	0	0	0	1	0	38	95				
ELTD1	64123	broad.mit.edu	37	1	79403509	79403509	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:79403509G>T	ENST00000370742.3	-	6	806	c.743C>A	c.(742-744)aCa>aAa	p.T248K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	248					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGTTGAATTTGTATCAAACTC	0.378																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(742-744)aCa>aAa		EGF, latrophilin and seven transmembrane domain containing 1							163.0	150.0	154.0					1																	79403509		1828	4082	5910	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403509G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.743C>A	1.37:g.79403509G>T	ENSP00000359778:p.Thr248Lys						p.T248K	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	6	806	-			248					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.743C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	3.395	-0.123534	0.06795	.	.	ENSG00000162618	ENST00000370742	T	0.09630	2.96	5.79	3.69	0.42338	Domain of unknown function DUF3497 (1);	0.471455	0.25807	N	0.028161	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B	0.31256	0.316	B	0.37833	0.259	T	0.38243	-0.9670	9	.	.	.	.	7.1395	0.25548	0.3627:0.0:0.6373:0.0	.	248	Q9HBW9	ELTD1_HUMAN	K	248	ENSP00000359778:T248K	.	T	-	2	0	ELTD1	79176097	0.774000	0.28592	0.831000	0.32960	0.661000	0.39034	3.027000	0.49697	1.413000	0.46997	0.557000	0.71058	ACA		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		87	464	1	0	6.65942e-36	1	7.27469e-36	87	464				
TIAM1	7074	broad.mit.edu	37	21	32589921	32589921	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32589921C>A	ENST00000286827.3	-	10	2561	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	697					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCCAGACCCCACAGAGAAGA	0.532																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2089-2091)tGg>tTg		T-cell lymphoma invasion and metastasis 1							185.0	161.0	169.0					21																	32589921		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589921C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2090G>T	21.37:g.32589921C>A	ENSP00000286827:p.Trp697Leu					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L	p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			10	2561	-			697					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2090G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906475	0.72868	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.32988	1.43;1.43	5.41	5.41	0.78517	.	0.124926	0.64402	D	0.000016	T	0.33556	0.0867	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.32573	0.101;0.061;0.376;0.104	B;B;B;B	0.30401	0.098;0.045;0.115;0.11	T	0.08953	-1.0697	10	0.46703	T	0.11	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	697;697;538;697	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	L	697;538;697	ENSP00000286827:W697L;ENSP00000441570:W697L	ENSP00000286827:W697L	W	-	2	0	TIAM1	31511792	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.569000	0.82380	2.803000	0.96430	0.655000	0.94253	TGG		0.532	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		104	424	1	0	3.95083e-50	1	4.33944e-50	104	424				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			6	288	0	0	0	1	0	6	288				
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.001		0.0	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292.0	278.0	283.0					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3902	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	854	0	0	0	1	0	7	854				
QRICH2	84074	broad.mit.edu	37	17	74287140	74287140	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:74287140C>T	ENST00000262765.5	-	4	3349	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1057										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTTTGGCCGGCCTGCTC	0.532																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3169-3171)gGc>gAc		glutamine rich 2							104.0	98.0	100.0					17																	74287140		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287140C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3170G>A	17.37:g.74287140C>T	ENSP00000262765:p.Gly1057Asp						p.G1057D	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	3349	-			1057					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3170G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530042	0.64860	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.50001	2.86;0.76	5.73	5.73	0.89815	.	.	.	.	.	T	0.53498	0.1800	N	0.20986	0.625	0.30470	N	0.773393	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.966	T	0.54043	-0.8352	9	0.51188	T	0.08	-8.9966	10.8835	0.46953	0.0:0.9145:0.0:0.0855	.	1057;1057	B5MD94;Q9H0J4	.;QRIC2_HUMAN	D	1057;65;1057	ENSP00000262765:G1057D;ENSP00000394461:G65D	ENSP00000262765:G1057D	G	-	2	0	QRICH2	71798735	0.059000	0.20769	0.615000	0.29064	0.014000	0.08584	1.025000	0.30090	2.712000	0.92718	0.555000	0.69702	GGC		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		6	497	0	0	0	1	0	6	497				
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						ENST00000356526.2																			1	Substitution - coding silent(1)	p.C112C(1)	lung(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(334-336)tgT>tgC		olfactory receptor, family 5, subfamily H, member 15							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	336	+			112						Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			7	1021	0	0	0	1	0	7	1021				
SDHAP1	255812	broad.mit.edu	37	3	195711436	195711436	+	RNA	SNP	C	C	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:195711436C>G	ENST00000427841.1	-	0	511					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AACAGACCACCAGAGCACCCA	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711436C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711436C>G								NR_003264.2						0	511	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			11	223	0	0	0	1	0	11	223				
KNDC1	85442	broad.mit.edu	37	10	135024207	135024207	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:135024207G>A	ENST00000304613.3	+	21	3908	c.3887G>A	c.(3886-3888)cGc>cAc	p.R1296H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1296	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R1296H(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCTCGACCGCATCAACAGC	0.622																																						ENST00000304613.3																			1	Substitution - Missense(1)	p.R1296H(1)	kidney(1)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3886-3888)cGc>cAc		kinase non-catalytic C-lobe domain (KIND) containing 1							256.0	200.0	219.0					10																	135024207		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024207G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3887G>A	10.37:g.135024207G>A	ENSP00000304437:p.Arg1296His					KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H	p.R1296H			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	21	3908	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1296			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3887G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288083	0.59976	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.60040	0.22;0.22	3.77	3.77	0.43336	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.147145	0.42548	U	0.000681	T	0.66636	0.2809	L	0.57536	1.79	0.36990	D	0.89472	D	0.64830	0.994	P	0.57846	0.828	T	0.74702	-0.3576	10	0.54805	T	0.06	-30.0194	13.5176	0.61549	0.0:0.0:1.0:0.0	.	1296	Q76NI1	VKIND_HUMAN	H	1296;1298	ENSP00000304437:R1296H;ENSP00000357561:R1298H	ENSP00000304437:R1296H	R	+	2	0	KNDC1	134874197	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	2.579000	0.46059	1.856000	0.53863	0.196000	0.17591	CGC		0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		5	443	0	0	0	1	0	5	443				
CARF	79800	broad.mit.edu	37	2	203820463	203820463	+	Silent	SNP	C	C	T	rs556863955		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:203820463C>T	ENST00000402905.3	+	7	945	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CARF_ENST00000438828.2_Silent_p.C208C|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Silent_p.C120C|WDR12_ENST00000477723.1_Intron|CARF_ENST00000434998.1_Silent_p.C106C|CARF_ENST00000456821.2_Silent_p.C196C|CARF_ENST00000545262.1_Silent_p.C132C|CARF_ENST00000444724.1_Silent_p.C208C|CARF_ENST00000428585.1_Silent_p.C132C|CARF_ENST00000414439.1_Silent_p.C106C|CARF_ENST00000320443.8_Silent_p.C208C	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	208					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TATGGGCCTGCCGTCTTAGGA	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16148	0.0		0.0	False		,,,				2504	0.0					ENST00000320443.8																			0											c.(622-624)tgC>tgT		calcium responsive transcription factor							67.0	65.0	65.0					2																	203820463		1817	4080	5897	SO:0001819	synonymous_variant	79800							g.chr2:203820463C>T	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.624C>T	2.37:g.203820463C>T						CARF_ENST00000545253.1_Silent_p.C120C|CARF_ENST00000545262.1_Silent_p.C132C|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Silent_p.C106C|CARF_ENST00000428585.1_Silent_p.C132C|CARF_ENST00000456821.2_Silent_p.C196C|CARF_ENST00000402905.2_Silent_p.C208C|CARF_ENST00000444724.1_Silent_p.C208C|CARF_ENST00000438828.2_Silent_p.C208C|CARF_ENST00000434998.1_Silent_p.C106C	p.C208C							7	1667	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	c.624C>T	CCDS42801.1																																																																																				0.413	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		5	393	0	0	0	1	0	5	393				
YEATS2	55689	broad.mit.edu	37	3	183433028	183433028	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:183433028G>A	ENST00000305135.5	+	2	273	c.78G>A	c.(76-78)cgG>cgA	p.R26R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	26					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.R26R(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAATAAGCGGCATAAAGCAA	0.398																																						ENST00000305135.5																			2	Substitution - coding silent(2)	p.R26R(2)	lung(1)|kidney(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(76-78)cgG>cgA		YEATS domain containing 2							117.0	114.0	115.0					3																	183433028		1862	4098	5960	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183433028G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.78G>A	3.37:g.183433028G>A							p.R26R	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	273	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		26					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.78G>A	CCDS43175.1																																																																																				0.398	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		6	524	0	0	0	1	0	6	524				
NELL1	4745	broad.mit.edu	37	11	21556023	21556023	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:21556023C>T	ENST00000357134.5	+	16	1901	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	NELL1_ENST00000532434.1_Intron|NELL1_ENST00000298925.5_Silent_p.D611D|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.D526D	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	583	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTTCCATGACGATGGGACCT	0.527																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1831-1833)gaC>gaT		NEL-like 1 (chicken)							183.0	149.0	161.0					11																	21556023		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556023C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1749C>T	11.37:g.21556023C>T						NELL1_ENST00000325319.5_Silent_p.D526D|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Silent_p.D583D	p.D611D			Q92832	NELL1_HUMAN			17	1986	+			583			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1833C>T	CCDS7855.1																																																																																				0.527	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		83	280	0	0	0	1	0	83	280				
EML1	2009	broad.mit.edu	37	14	100405553	100405553	+	Silent	SNP	G	G	A	rs553895497		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:100405553G>A	ENST00000262233.6	+	21	2350	c.2211G>A	c.(2209-2211)tcG>tcA	p.S737S	EML1_ENST00000334192.4_Silent_p.S756S|EML1_ENST00000327921.9_Silent_p.S725S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	737	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGAAGGCTCGGACGGAACCG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17878	0.0		0.0	False		,,,				2504	0.0					ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2209-2211)tcG>tcA		echinoderm microtubule associated protein like 1							110.0	98.0	102.0					14																	100405553		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405553G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2211G>A	14.37:g.100405553G>A						EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	p.S737S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2350	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	737					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.2211G>A	CCDS32155.1																																																																																				0.582	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		77	264	0	0	0	1	0	77	264				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	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_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_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_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_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		69	238	1	0	2.34191e-24	1	2.54445e-24	69	238				
PRR5L	79899	broad.mit.edu	37	11	36472814	36472814	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36472814T>A	ENST00000378867.3	+	9	996	c.641T>A	c.(640-642)gTg>gAg	p.V214E	PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	214					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGCTGGTGAAGCAAGTG	0.527																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(640-642)gTg>gAg		proline rich 5 like							188.0	158.0	168.0					11																	36472814		2202	4298	6500	SO:0001583	missense	79899							g.chr11:36472814T>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.641T>A	11.37:g.36472814T>A	ENSP00000368144:p.Val214Glu					PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron	p.V214E	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	996	+			214					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.641T>A	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144704	0.77888	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.35973	1.41;1.28;1.41	5.16	4.02	0.46733	.	0.070757	0.56097	D	0.000027	T	0.51652	0.1687	M	0.72894	2.215	0.53688	D	0.999979	D;D	0.71674	0.99;0.998	P;P	0.58266	0.836;0.759	T	0.54166	-0.8334	10	0.87932	D	0	-8.0315	10.571	0.45200	0.0:0.0773:0.0:0.9227	.	86;214	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	E	214;141;214	ENSP00000435050:V214E;ENSP00000310103:V141E;ENSP00000368144:V214E	ENSP00000310103:V141E	V	+	2	0	PRR5L	36429390	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.302000	0.59092	0.810000	0.34279	0.260000	0.18958	GTG		0.527	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		76	335	0	0	0	1	0	76	335				
TGS1	96764	broad.mit.edu	37	8	56699281	56699281	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:56699281C>T	ENST00000260129.5	+	4	1301	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	275					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACTTACACATCTAAAACAGAA	0.363																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(823-825)tCt>tTt		trimethylguanosine synthase 1							127.0	124.0	125.0					8																	56699281		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699281C>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.824C>T	8.37:g.56699281C>T	ENSP00000260129:p.Ser275Phe						p.S275F	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1301	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	275					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.824C>T	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867768	0.32977	.	.	ENSG00000137574	ENST00000260129	T	0.17691	2.26	5.7	2.69	0.31865	.	0.605105	0.16295	N	0.220740	T	0.13670	0.0331	M	0.72118	2.19	0.09310	N	1	P;P	0.41265	0.744;0.744	B;B	0.28139	0.055;0.086	T	0.32079	-0.9920	10	0.66056	D	0.02	-0.024	3.782	0.08684	0.2304:0.525:0.1122:0.1325	.	275;275	B2RBJ7;Q96RS0	.;TGS1_HUMAN	F	275	ENSP00000260129:S275F	ENSP00000260129:S275F	S	+	2	0	TGS1	56861835	0.001000	0.12720	0.006000	0.13384	0.834000	0.47266	0.292000	0.19011	0.709000	0.31976	0.591000	0.81541	TCT		0.363	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		94	415	0	0	0	1	0	94	415				
MRPL57	78988	broad.mit.edu	37	13	21751133	21751133	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:21751133C>T	ENST00000309594.4	+	2	156	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		26					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGCCGCGGTTCGTGTCGTTGC	0.662																																						ENST00000309594.4																			0				kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5						c.(76-78)ttC>ttT		mitochondrial ribosomal protein 63							25.0	27.0	26.0					13																	21751133		2173	4265	6438	SO:0001819	synonymous_variant	78988							g.chr13:21751133C>T																												ENST00000309594.4:c.78C>T	13.37:g.21751133C>T							p.F26F	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	156	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	26					A2A332	Silent	SNP	ENST00000309594.4	37	c.78C>T	CCDS9296.1																																																																																				0.662	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2			47	295	0	0	0	1	0	47	295				
PDE6B	5158	broad.mit.edu	37	4	619752	619752	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:619752G>A	ENST00000496514.1	+	1	358	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V113M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	113	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCTTTTCAGCGTGCAGCCGGA	0.687																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(337-339)Gtg>Atg		phosphodiesterase 6B, cGMP-specific, rod, beta							15.0	14.0	14.0					4																	619752		2195	4292	6487	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619752G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.337G>A	4.37:g.619752G>A	ENSP00000420295:p.Val113Met					PDE6B_ENST00000496514.1_Missense_Mutation_p.V113M	p.V113M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			1	380	+			113			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.337G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197660	0.79015	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.67698	-0.28;-0.28	4.98	4.13	0.48395	GAF (2);	0.129327	0.51477	D	0.000089	T	0.81763	0.4891	M	0.89287	3.02	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.938	D	0.84493	0.0612	10	0.87932	D	0	.	10.3698	0.44046	0.0964:0.0:0.9036:0.0	.	113;113	P35913;P35913-2	PDE6B_HUMAN;.	M	113	ENSP00000255622:V113M;ENSP00000420295:V113M	ENSP00000255622:V113M	V	+	1	0	PDE6B	609752	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.779000	0.62375	2.326000	0.78906	0.561000	0.74099	GTG		0.687	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		3	27	0	0	0	1	0	3	27				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	1763	0	0	0	1	0	10	1763				
TTN	7273	broad.mit.edu	37	2	179397543	179397543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:179397543C>T	ENST00000591111.1	-	308	99100	c.98876G>A	c.(98875-98877)tGg>tAg	p.W32959*	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W34600*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32959					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)			GAACTGTTCCCATCTTGAAAG	0.428																																						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.(103798-103800)tGg>tAg		titin							108.0	102.0	104.0					2																	179397543		1990	4160	6150	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397543C>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.98876G>A	2.37:g.179397543C>T	ENSP00000465570:p.Trp32959*					TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*	p.W34600*	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)		358	104023	-			32959					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.103799G>A		.	.	.	.	.	.	.	.	.	.	C	73	115.725762	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6737	0.95921	0.0:1.0:0.0:0.0	.	.	.	.	X	32032;25535;25727;25660;25532	.	ENSP00000340554:W25727X	W	-	2	0	TTN	179105789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.757000	0.94681	0.462000	0.41574	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		76	173	0	0	0	1	0	76	173				
ZAN	7455	broad.mit.edu	37	7	100350298	100350298	+	RNA	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100350298C>T	ENST00000348028.3	+	0	2735				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							269.0	312.0	298.0					7																	100350298		1882	4119	6001			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350298C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350298C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2718	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	11.71	1.720754	0.30503	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	3.97	0.987	0.19790	.	0.553938	0.13699	N	0.368999	T	0.53158	0.1779	L	0.33485	1.01	0.09310	N	0.999996	P;B	0.44734	0.842;0.201	P;B	0.47645	0.553;0.148	T	0.44345	-0.9334	10	0.62326	D	0.03	.	5.9038	0.18982	0.0:0.6494:0.1584:0.1922	.	857;857	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	857	ENSP00000445943:P857L;ENSP00000445091:P857L;ENSP00000444427:P857L	ENSP00000423579:P857L	P	+	2	0	ZAN	100188234	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.065000	0.16485	-0.192000	0.12808	CCC		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	958	0	0	0	1	0	7	958				
PDE3A	5139	broad.mit.edu	37	12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	649					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGAGAGAGCCTCTGAGGAAA	0.443																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1945-1947)cCt>cAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						140.0	119.0	126.0					12																	20787935		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20787935C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1946C>A	12.37:g.20787935C>A	ENSP00000351957:p.Pro649His					PDE3A_ENST00000544307.1_3'UTR	p.P649H	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			8	1986	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	649					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1946C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	4.426	0.078860	0.08533	.	.	ENSG00000172572	ENST00000359062	T	0.61859	0.07	5.64	3.77	0.43336	.	7739.210000	0.00166	N	0.000000	T	0.51227	0.1662	N	0.22421	0.69	0.09310	N	1	P	0.34837	0.472	B	0.33295	0.161	T	0.53114	-0.8484	10	0.52906	T	0.07	.	14.0504	0.64732	0.454:0.546:0.0:0.0	.	649	Q14432	PDE3A_HUMAN	H	649	ENSP00000351957:P649H	ENSP00000351957:P649H	P	+	2	0	PDE3A	20679202	0.242000	0.23868	0.016000	0.15963	0.040000	0.13550	0.863000	0.27913	0.699000	0.31761	-0.175000	0.13238	CCT		0.443	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			36	270	1	0	2.42023e-17	1	2.58759e-17	36	270				
LOC101243545	101243545	broad.mit.edu	37	3	161147301	161147301	+	lincRNA	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:161147301A>G	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						ACACCTTTCAACACTGCCTTC	0.552																																						ENST00000473595.1																			0																				41.0	51.0	47.0					3																	161147301		1429	2603	4032			0							g.chr3:161147301A>G																													3.37:g.161147301A>G						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1350	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.552	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			6	403	0	0	0	1	0	6	403				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		10	467	0	0	0	1	0	10	467				
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						ENST00000417404.1																			0																																																			0							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1291	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		4	220	0	0	0	1	0	4	220				
PSG9	5678	broad.mit.edu	37	19	43773549	43773549	+	Missense_Mutation	SNP	C	C	T	rs142118461	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:43773549C>T	ENST00000270077.3	-	1	131	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000244293.7_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R12H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCAGGTGATGCGCTGTGTGCA	0.622													T|||	2	0.000399361	0.0	0.0	5008	,	,		16625	0.0		0.0	False		,,,				2504	0.002					ENST00000244293.7																			1	Substitution - Missense(1)	p.R12H(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(34-36)cGc>cAc		pregnancy specific beta-1-glycoprotein 9		T	HIS/ARG	2,4404		0,2,2201	106.0	102.0	103.0		35	-4.3	0.0	19	dbSNP_134	103	3,8597		0,3,4297	no	missense	PSG9	NM_002784.3	29	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	benign	12/427	43773549	5,13001	2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43773549C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.35G>A	19.37:g.43773549C>T	ENSP00000270077:p.Arg12His					PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H	p.R12H			Q00887	PSG9_HUMAN			1	101	-		Prostate(69;0.00682)	12					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.35G>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	a	0.651	-0.809417	0.02798	4.54E-4	3.49E-4	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.45276	0.9;2.43;2.72;1.73	2.17	-4.34	0.03666	.	.	.	.	.	T	0.13329	0.0323	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.15141	0.012;0.003;0.006;0.0;0.001	B;B;B;B;B	0.10450	0.002;0.002;0.005;0.002;0.001	T	0.04255	-1.0965	9	0.19147	T	0.46	.	1.5305	0.02534	0.1396:0.2816:0.1389:0.4399	.	12;12;12;12;12	E7EW65;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;PSG9_HUMAN	H	12	ENSP00000270077:R12H;ENSP00000291752:R12H;ENSP00000396753:R12H;ENSP00000244293:R12H	ENSP00000244293:R12H	R	-	2	0	PSG9	48465389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.074000	0.00154	-3.895000	0.00094	-3.946000	0.00015	CGC		0.622	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		7	783	0	0	0	1	0	7	783				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			16	547	0	0	0	1	0	16	547				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		18	197	0	0	0	1	0	18	197				
OR4C13	283092	broad.mit.edu	37	11	49974001	49974001	+	Silent	SNP	G	G	A	rs148894043	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49974001G>A	ENST00000555099.1	+	1	59	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTGACAGAGTTTATTCTAT	0.299																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(25-27)gaG>gaA		olfactory receptor, family 4, subfamily C, member 13							92.0	93.0	93.0					11																	49974001		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974001G>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.27G>A	11.37:g.49974001G>A							p.E9E	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	59	+			9					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.27G>A	CCDS31495.1																																																																																				0.299	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		104	397	0	0	0	1	0	104	397				
UBA7	7318	broad.mit.edu	37	3	49842859	49842859	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49842859A>T	ENST00000333486.3	-	24	3079	c.2921T>A	c.(2920-2922)cTg>cAg	p.L974Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	974					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCTGAACCAGTTCTGTCAC	0.617																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2920-2922)cTg>cAg		ubiquitin-like modifier activating enzyme 7							93.0	83.0	86.0					3																	49842859		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49842859A>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2921T>A	3.37:g.49842859A>T	ENSP00000333266:p.Leu974Gln						p.L974Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	24	3079	-			974					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2921T>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255794	0.59321	.	.	ENSG00000182179	ENST00000333486	T	0.57752	0.38	5.36	5.36	0.76844	Ubiquitin-activating enzyme e1, C-terminal (1);	0.261023	0.25634	N	0.029323	T	0.72358	0.3450	M	0.80183	2.485	0.45150	D	0.998165	D	0.89917	1.0	D	0.83275	0.996	T	0.76377	-0.2981	10	0.87932	D	0	-1.9099	11.7536	0.51862	1.0:0.0:0.0:0.0	.	974	P41226	UBA7_HUMAN	Q	974	ENSP00000333266:L974Q	ENSP00000333266:L974Q	L	-	2	0	UBA7	49817863	0.105000	0.21958	0.392000	0.26245	0.872000	0.50106	2.681000	0.46926	2.026000	0.59711	0.460000	0.39030	CTG		0.617	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		100	87	0	0	0	1	0	100	87				
AGAP11	119385	broad.mit.edu	37	10	88768459	88768459	+	RNA	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:88768459C>T	ENST00000444431.1	+	0	3059				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GTTCCAATGGCGTGCTCACCT	0.433																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							115.0	132.0	126.0					10																	88768459		2187	4279	6466			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768459C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768459C>T						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	3059	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.433	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		8	1093	0	0	0	1	0	8	1093				
RCBTB1	55213	broad.mit.edu	37	13	50125491	50125491	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:50125491G>A	ENST00000378302.2	-	8	1085	c.825C>T	c.(823-825)agC>agT	p.S275S	RCBTB1_ENST00000546015.1_Silent_p.S275S|RCBTB1_ENST00000258646.3_Silent_p.S275S	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	275					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGTGTGCTGGGCTTAGCAGGT	0.522																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(823-825)agC>agT		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							208.0	163.0	178.0					13																	50125491		2203	4300	6503	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50125491G>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.825C>T	13.37:g.50125491G>A						RCBTB1_ENST00000258646.3_Silent_p.S275S|RCBTB1_ENST00000546015.1_Silent_p.S275S	p.S275S	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	8	1085	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	275					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.825C>T	CCDS9418.1																																																																																				0.522	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		11	416	0	0	0	1	0	11	416				
OSBPL5	114879	broad.mit.edu	37	11	3129166	3129166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:3129166C>T	ENST00000263650.7	-	8	860	c.701G>A	c.(700-702)tGg>tAg	p.W234*	OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	234	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGTCCAGCCAGCAGCGACC	0.697																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(700-702)tGg>tAg		oxysterol binding protein-like 5							28.0	34.0	32.0					11																	3129166		2201	4294	6495	SO:0001587	stop_gained	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3129166C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.701G>A	11.37:g.3129166C>T	ENSP00000263650:p.Trp234*					OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*	p.W234*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	8	860	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	234			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Nonsense_Mutation	SNP	ENST00000263650.7	37	c.701G>A	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989428	0.74589	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0922	16.7016	0.85350	0.0:1.0:0.0:0.0	.	.	.	.	X	234;166;145;166	.	ENSP00000263650:W234X	W	-	2	0	OSBPL5	3085742	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.116000	0.77119	2.156000	0.67533	0.455000	0.32223	TGG		0.697	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			51	60	0	0	0	1	0	51	60				
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:106926482T>C	ENST00000434710.1	-	0	139									immunoglobulin heavy variable 3-43																		CCAGCTGCACTTCACACTGGA	0.527																																						ENST00000434710.1																			0																				176.0	114.0	134.0					14																	106926482		2031	4150	6181			0							g.chr14:106926482T>C	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926482T>C														0	139	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.527	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		7	682	0	0	0	1	0	7	682				
CXADRP3	440224	broad.mit.edu	37	18	14479154	14479154	+	lincRNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:14479154T>C	ENST00000581457.1	-	0	754					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		GCATGGCAGATAGGTAGTTTC	0.488																																						ENST00000581457.1																			0																																																			0							g.chr18:14479154T>C			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479154T>C								NR_024076.1						0	754	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.488	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		35	108	0	0	0	1	0	35	108				
LOC101927209	101927209	broad.mit.edu	37	1	142713239	142713239	+	lincRNA	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:142713239T>A	ENST00000610091.1	-	0	2419																											TCTTCTGCATTTTCATACATC	0.383																																						ENST00000369381.2																			0																																																			0							g.chr1:142713239T>A																													1.37:g.142713239T>A														0	1366	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.383	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			65	171	0	0	0	1	0	65	171				
CDKN2A	1029	broad.mit.edu	37	9	21974702	21974702	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974702T>A	ENST00000304494.5	-	1	395	c.125A>T	c.(124-126)aAt>aTt	p.N42I	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCGTAACTATTCGGTGCGTT	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1341	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(124-126)aAt>aTt		cyclin-dependent kinase inhibitor 2A							48.0	58.0	55.0					9																	21974702		2203	4300	6503	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974702T>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.125A>T	9.37:g.21974702T>A	ENSP00000307101:p.Asn42Ile	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron	p.N42I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	395	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	42					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.125A>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153068	0.78001	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.69435	-0.4;-0.4	4.89	3.73	0.42828	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.84415	0.5467	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.858	D	0.86363	0.1718	9	0.87932	D	0	.	10.4356	0.44433	0.1463:0.0:0.0:0.8537	.	42;42	P42771;G3XAG3	CD2A1_HUMAN;.	I	42	ENSP00000307101:N42I;ENSP00000394932:N42I	ENSP00000307101:N42I	N	-	2	0	CDKN2A	21964702	1.000000	0.71417	0.034000	0.17996	0.034000	0.12701	5.683000	0.68189	0.964000	0.38108	-0.327000	0.08410	AAT		0.687	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		301	204	0	0	0	1	0	301	204				
PLEKHA6	22874	broad.mit.edu	37	1	204214837	204214837	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:204214837C>T	ENST00000272203.3	-	14	2254	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	PLEKHA6_ENST00000414478.1_Silent_p.R666R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	646										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTGGATTTGCCGGTTCAGCA	0.582																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1936-1938)cgG>cgA		pleckstrin homology domain containing, family A member 6							114.0	96.0	102.0					1																	204214837		2203	4300	6503	SO:0001819	synonymous_variant	22874							g.chr1:204214837C>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1938G>A	1.37:g.204214837C>T						PLEKHA6_ENST00000414478.1_Silent_p.R666R	p.R646R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		14	2254	-	all_cancers(21;0.0222)|Breast(84;0.179)		646					A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.1938G>A	CCDS1444.1																																																																																				0.582	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		7	621	0	0	0	1	0	7	621				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	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			5	73	0	0	0	1	0	5	73				
PEG3	5178	broad.mit.edu	37	19	57333066	57333066	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:57333066C>T	ENST00000326441.9	-	7	985	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PEG3_ENST00000593695.1_Missense_Mutation_p.D82N|PEG3_ENST00000598410.1_Missense_Mutation_p.D83N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D83N|ZIM2_ENST00000391708.3_Missense_Mutation_p.D83N|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000599935.1_Missense_Mutation_p.D83N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D83N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D83N|PEG3_ENST00000423103.2_Missense_Mutation_p.D208N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	208					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCTCTGTCCATTTCAAAG	0.512																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(622-624)Gac>Aac		paternally expressed 3							195.0	172.0	180.0					19																	57333066		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57333066C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.622G>A	19.37:g.57333066C>T	ENSP00000326581:p.Asp208Asn					ZIM2_ENST00000221722.5_Missense_Mutation_p.D83N|PEG3_ENST00000593695.1_Missense_Mutation_p.D82N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D83N|PEG3_ENST00000423103.2_Missense_Mutation_p.D208N|ZIM2_ENST00000391708.3_Missense_Mutation_p.D83N|PEG3_ENST00000598410.1_Missense_Mutation_p.D83N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D83N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D83N	p.D208N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	985	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	208					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.622G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970719	0.53614	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.05258	3.47;3.47;4.21;4.21	3.25	3.25	0.37280	.	1.047520	0.07594	N	0.922588	T	0.04634	0.0126	N	0.08118	0	.	.	.	B;B;B;B	0.26635	0.155;0.079;0.079;0.155	B;B;B;B	0.26094	0.05;0.014;0.032;0.066	T	0.11941	-1.0567	9	0.62326	D	0.03	-4.1216	10.283	0.43552	0.0:1.0:0.0:0.0	.	83;208;142;83	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	N	83;83;208;208;208	ENSP00000375589:D83N;ENSP00000221722:D83N;ENSP00000326581:D208N;ENSP00000403051:D208N	ENSP00000221722:D83N	D	-	1	0	ZIM2	62024878	0.077000	0.21312	0.028000	0.17463	0.523000	0.34469	3.102000	0.50291	2.146000	0.66826	0.563000	0.77884	GAC		0.512	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			123	990	0	0	0	1	0	123	990				
APBB1	322	broad.mit.edu	37	11	6432092	6432092	+	Missense_Mutation	SNP	C	C	A	rs145320037		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:6432092C>A	ENST00000609360.1	-	2	585	c.486G>T	c.(484-486)gaG>gaT	p.E162D	APBB1_ENST00000389906.2_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		catcatcatcctcctcctcct	0.637																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-486)gaG>gaT		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							35.0	35.0	35.0					11																	6432092		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432092C>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486G>T	11.37:g.6432092C>A	ENSP00000477213:p.Glu162Asp					APBB1_ENST00000311051.3_Missense_Mutation_p.E162D|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000533407.1_Intron	p.E162D	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.486G>T		.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899741	0.02472	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14893	2.47;2.47;2.47	4.85	-4.93	0.03066	.	0.650451	0.13993	N	0.348689	T	0.05318	0.0141	N	0.08118	0	0.27333	N	0.956714	B	0.10296	0.003	B	0.10450	0.005	T	0.38134	-0.9675	10	0.12766	T	0.61	-7.4359	4.4462	0.11598	0.2593:0.2348:0.0:0.5059	.	162	O00213-2	.	D	162	ENSP00000299402:E162D;ENSP00000311912:E162D;ENSP00000374556:E162D	ENSP00000299402:E162D	E	-	3	2	APBB1	6388668	0.040000	0.19996	0.894000	0.35097	0.055000	0.15305	-0.394000	0.07296	-1.017000	0.03367	-0.556000	0.04195	GAG		0.637	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		4	143	1	0	0.00909568	1	0.00918709	4	143				
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C	rs201680274		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:23544724T>C	ENST00000300619.7	-	4	1262	c.1057A>G	c.(1057-1059)Aaa>Gaa	p.K353E	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	353					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)	p.K353E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.K353E(1)	lung(1)								c.(1057-1059)Aaa>Gaa		zinc finger protein 91							41.0	44.0	43.0					19																	23544724		2011	4192	6203	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544724T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1057A>G	19.37:g.23544724T>C	ENSP00000300619:p.Lys353Glu					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E	p.K353E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1262	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	353					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1057A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	1.992	-0.431577	0.04669	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07567	3.18;3.18	1.65	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.05158	-0.105	0.09310	N	1	B;B	0.18968	0.032;0.0	B;B	0.15052	0.012;0.003	T	0.43376	-0.9395	9	0.12103	T	0.63	.	0.9503	0.01374	0.1559:0.2641:0.3143:0.2656	.	321;353	Q05481-2;Q05481	.;ZNF91_HUMAN	E	353;321	ENSP00000300619:K353E;ENSP00000380272:K321E	ENSP00000300619:K353E	K	-	1	0	ZNF91	23336564	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-4.975000	0.00164	-1.510000	0.01796	-1.288000	0.01363	AAA		0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		6	452	0	0	0	1	0	6	452				
PRR12	57479	broad.mit.edu	37	19	50119105	50119105	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50119105C>T	ENST00000418929.2	+	9	5138	c.5126C>T	c.(5125-5127)aCg>aTg	p.T1709M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	888							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGAAAAGACGACATCTGAG	0.642																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(5125-5127)aCg>aTg		proline rich 12							33.0	39.0	37.0					19																	50119105		1904	4121	6025	SO:0001583	missense	57479						DNA binding	g.chr19:50119105C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5126C>T	19.37:g.50119105C>T	ENSP00000394510:p.Thr1709Met						p.T1709M	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	9	5138	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	888					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.5126C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	5.318	0.244075	0.10077	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	3.93	-1.45	0.08828	.	1.148300	0.06648	N	0.762195	T	0.18800	0.0451	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23655	-1.0182	9	0.37606	T	0.19	-0.537	5.1699	0.15105	0.1564:0.2713:0.0:0.5723	.	1709	Q9ULL5-3	.	M	1709;889;889	.	ENSP00000246798:T889M	T	+	2	0	PRR12	54810917	0.000000	0.05858	0.000000	0.03702	0.327000	0.28475	-1.100000	0.03339	-0.193000	0.10415	0.561000	0.74099	ACG		0.642	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		14	90	0	0	0	1	0	14	90				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C														0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		7	359	0	0	0	1	0	7	359				
MYO19	80179	broad.mit.edu	37	17	34856959	34856959	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:34856959G>A	ENST00000431794.3	-	22	2719	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	MYO19_ENST00000268852.9_Missense_Mutation_p.P533S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	733	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGGGGGCTGGCATGGCCTCA	0.572																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2197-2199)Cca>Tca		myosin XIX							110.0	114.0	113.0					17																	34856959		2131	4241	6372	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34856959G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2197C>T	17.37:g.34856959G>A	ENSP00000409936:p.Pro733Ser					MYO19_ENST00000268852.9_Missense_Mutation_p.P533S	p.P733S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	22	2719	-		Breast(25;0.00957)|Ovarian(249;0.17)	733					Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.2197C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864215	0.32977	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	T;T	0.65364	-0.15;-0.15	4.88	2.78	0.32641	Myosin head, motor domain (1);	0.658031	0.12494	N	0.463931	T	0.51924	0.1703	L	0.48986	1.54	0.09310	N	0.999998	B;B	0.25272	0.01;0.122	B;B	0.22601	0.006;0.04	T	0.37244	-0.9714	10	0.25751	T	0.34	.	7.7971	0.29154	0.0:0.199:0.6272:0.1739	.	733;533	Q96H55;Q96H55-4	MYO19_HUMAN;.	S	733;533	ENSP00000409936:P733S;ENSP00000268852:P533S	ENSP00000268852:P533S	P	-	1	0	MYO19	31931072	0.008000	0.16893	0.000000	0.03702	0.510000	0.34073	1.306000	0.33505	0.521000	0.28445	0.462000	0.41574	CCA		0.572	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		6	648	0	0	0	1	0	6	648				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		10	268						10	268	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	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	229						9	229	---	---	---	---
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		15	478						15	478	---	---	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(43-45)tfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs					TMCO2_ENST00000468258.1_Intron	p.S15fs	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		9	944						9	944	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	526						7	526	---	---	---	---
SLC25A24	29957	broad.mit.edu	37	1	108700183	108700183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:108700183delT	ENST00000565488.1	-	5	789	c.570delA	c.(568-570)aaafs	p.K190fs	SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	190					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.K171fs*29(1)|p.K190fs*29(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATTGTCCGGATTTTTTTTCGT	0.453																																						ENST00000565488.1																			2	Deletion - Frameshift(2)	p.K171fs*29(1)|p.K190fs*29(1)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(568-570)aafs		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24			,	1,4265		0,1,2132	106.0	100.0	102.0		,	2.6	0.0	1		103	0,8254		0,0,4127	no	frameshift,frameshift	SLC25A24	NM_213651.1,NM_013386.3	,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,	,	108700183	1,12519	2203	4300	6503	SO:0001589	frameshift_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108700183delT	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.570delA	1.37:g.108700183delT	ENSP00000457733:p.Lys190fs					SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs	p.K190fs	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	5	789	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	190					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Frame_Shift_Del	DEL	ENST00000565488.1	37	c.570delA	CCDS41361.1																																																																																				0.453	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		9	523						9	523	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142699961	142699961	+	lincRNA	DEL	T	T	-	rs199580941|rs200844453|rs200996945	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:142699961delT	ENST00000610091.1	-	0	3130																											tatatatatatatatCCAAAA	0.259													|||unknown(NO_COVERAGE)	2779	0.554912	0.3616	0.7421	5008	,	,		12534	0.4841		0.7654	False		,,,				2504	0.5399					ENST00000369381.2																			0																																																			0							g.chr1:142699961delT																													1.37:g.142699961delT														0	2077	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.259	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	5						3	5	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210024	143210025	+	lincRNA	INS	-	-	AA	rs368826391|rs370410600		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:143210024_143210025insAA	ENST00000412204.2	-	0	1045_1046				RP11-782C8.1_ENST00000438000.1_lincRNA																							TCTAGACTGATGATTCAATTTC	0.381																																						ENST00000412204.2																			0																																																			0							g.chr1:143210024_143210025insAA																													1.37:g.143210024_143210025insAA						RP11-782C8.1_ENST00000438000.1_lincRNA								0	1045_1046	-									RNA	INS	ENST00000412204.2	37																																																																																						0.381	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			7	277						7	277	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			8	83						8	83	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		10	88						10	88	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		7	1320						7	1320	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		13	537						13	537	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		17	1165						17	1165	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del|PVRL4_ENST00000486694.1_5'Flank	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		10	694						10	694	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		15	323						15	323	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del|POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del|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_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000420254.3_Intron	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		11	1208						11	1208	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		11	651						11	651	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		12	1332						12	1332	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226564861	226564861	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:226564861delT	ENST00000366794.5	-	13	2032	c.1889delA	c.(1888-1890)aatfs	p.N630fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	630					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTCGTGAAATTTTTGGAGTG	0.453								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1888-1890)atfs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							191.0	198.0	196.0					1																	226564861		2203	4300	6503	SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226564861delT	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1889delA	1.37:g.226564861delT	ENSP00000355759:p.Asn630fs						p.N630fs	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	13	2032	-	Breast(184;0.133)		630					B1ANJ4|Q8IUZ9	Frame_Shift_Del	DEL	ENST00000366794.5	37	c.1889delA	CCDS1554.1																																																																																				0.453	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		7	1618						7	1618	---	---	---	---
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)tttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCAAGCTCAAAAAAAATGC	0.562																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	GRCh37	CD065661	AGT	D		c.(1288-1290)ttfs		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						96.0	93.0	94.0					1																	230839055		2203	4300	6503	SO:0001589	frameshift_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230839055delA	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1290delT	1.37:g.230839055delA	ENSP00000355627:p.Phe430fs						p.F430fs	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1504	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	430					Q16358|Q16359|Q96F91	Frame_Shift_Del	DEL	ENST00000366667.4	37	c.1290delT	CCDS1585.1																																																																																				0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		9	546						9	546	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	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)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		9	441						9	441	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|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_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_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		8	317						8	317	---	---	---	---
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Intron	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:38178783delT	ENST00000406384.1	+	2	646				RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000407257.1_Frame_Shift_Del_p.I142fs	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAGAGTGCCATTTTTTTTGAT	0.333																																						ENST00000407257.1																			0											c.(424-426)atfs		regulator of microtubule dynamics 2							67.0	73.0	71.0					2																	38178783		2195	4296	6491	SO:0001627	intron_variant	151393							g.chr2:38178783delT	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21911T>-	2.37:g.38178783delT						RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA	p.I142fs							2	572	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Frame_Shift_Del	DEL	ENST00000406384.1	37	c.425delT	CCDS54351.1																																																																																				0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		9	456						9	456	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093344_54093345insT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	805						8	805	---	---	---	---
CFAP36	112942	broad.mit.edu	37	2	55772051	55772052	+	Frame_Shift_Del	DEL	AG	AG	-	rs373330967		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:55772051_55772052delAG	ENST00000349456.4	+	10	1084_1085	c.936_937delAG	c.(934-939)acagagfs	p.E313fs	CCDC104_ENST00000339012.3_Frame_Shift_Del_p.E338fs|CCDC104_ENST00000407816.3_Frame_Shift_Del_p.E284fs			Q96G28	CFA36_HUMAN		313										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGAAATGACAGAGAAACCAGA	0.332																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(934-939)acagfs		coiled-coil domain containing 104																																				SO:0001589	frameshift_variant	112942							g.chr2:55772051_55772052delAG																												ENST00000349456.4:c.936_937delAG	2.37:g.55772053_55772054delAG	ENSP00000295117:p.Glu313fs					CCDC104_ENST00000407816.3_Frame_Shift_Del_p.TE283fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.TE337fs	p.TE312fs			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1084_1085	+			312					Q53SF0|Q53ST9|Q6UY34	Frame_Shift_Del	DEL	ENST00000349456.4	37	c.936_937delAG	CCDS1854.2																																																																																				0.332	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			28	134						28	134	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.640	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			11	462						11	462	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		7	513						7	513	---	---	---	---
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A	rs375647001	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	13	749						13	749	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166532950	166532950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:166532950delA	ENST00000342316.4	+	4	809	c.537delA	c.(535-537)acafs	p.T179fs	CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs|CSRNP3_ENST00000314499.7_Frame_Shift_Del_p.T179fs	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					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						CTTTGCCAACAAAAAAACGAA	0.478																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(535-537)acfs		cysteine-serine-rich nuclear protein 3							185.0	189.0	188.0					2																	166532950		2203	4300	6503	SO:0001589	frameshift_variant	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.chr2:166532950delA	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.537delA	2.37:g.166532950delA	ENSP00000344042:p.Thr179fs					CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs|CSRNP3_ENST00000342316.4_Frame_Shift_Del_p.T179fs	p.T179fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	913	+			179					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Frame_Shift_Del	DEL	ENST00000342316.4	37	c.537delA	CCDS2225.1																																																																																				0.478	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		7	1556						7	1556	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104998	168105000	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:168104998_168105000delCCT	ENST00000409195.1	+	9	7185_7187	c.7096_7098delCCT	c.(7096-7098)cctdel	p.P2370del	XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2195					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCTGCCGCCTCCTCCTCCTC	0.468																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7096-7098)del		xin actin-binding repeat containing 2																																				SO:0001651	inframe_deletion	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104998_168105000delCCT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7096_7098delCCT	2.37:g.168105007_168105009delCCT	ENSP00000386840:p.Pro2370del					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del	p.P2370del	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7185_7187	+			2195					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	In_Frame_Del	DEL	ENST00000409195.1	37	c.7096_7098delCCT	CCDS42769.1																																																																																				0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	668						7	668	---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174097115	174097117	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:174097115_174097117delGCT	ENST00000375213.3	+	14	1209_1211	c.1131_1133delGCT	c.(1129-1134)cggctg>cgg	p.L381del	MLTK_ENST00000409176.2_In_Frame_Del_p.L381del|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		381	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAGGGAAGCGGCTGCTGCTGCTG	0.433																																						ENST00000375213.3																			0											c.(1129-1134)cgg>cg																																						SO:0001651	inframe_deletion	0							g.chr2:174097115_174097117delGCT																												ENST00000375213.3:c.1131_1133delGCT	2.37:g.174097124_174097126delGCT	ENSP00000364361:p.Leu381del					MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	p.RL377del	NM_016653.2	NP_057737.2					14	1209_1211	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	In_Frame_Del	DEL	ENST00000375213.3	37	c.1131_1133delGCT	CCDS42777.1																																																																																				0.433	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			9	1191						9	1191	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353																																						ENST00000286070.5																			3	Deletion - Frameshift(2)|Unknown(1)	p.A382fs*7(2)|p.?(1)	large_intestine(2)|skin(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1135-1137)aafs		RNA binding motif protein 45				3,107,4156		0,0,3,40,27,2063	69.0	75.0	73.0			4.7	1.0	2		75	6,163,8085		0,0,6,55,53,4013	no	codingComplex	RBM45	NM_152945.2		0,0,9,95,80,6076	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0475,2.5785,2.2284			178988920	9,270,12241	2203	4300	6503	SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988920delA	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1135delA	2.37:g.178988920delA	ENSP00000286070:p.Lys381fs						p.K381fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1227	+			383					Q6NYL0|Q8NFC9	Frame_Shift_Del	DEL	ENST00000286070.5	37	c.1135delA	CCDS33335.1																																																																																				0.353	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		15	619						15	619	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3769-3771)atfs		dynein, axonemal, heavy chain 7							103.0	95.0	97.0					2																	196788374		1906	4139	6045	SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788374delT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	c.3770delA	CCDS42794.1																																																																																				0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	439						8	439	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660886	227660886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:227660886delG	ENST00000305123.5	-	1	3589	c.2569delC	c.(2569-2571)cggfs	p.R857fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	857					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGTGGGCCGGGCCAGGCGG	0.662																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2569-2571)ggfs		insulin receptor substrate 1							32.0	42.0	39.0					2																	227660886		2203	4300	6503	SO:0001589	frameshift_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660886delG		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2569delC	2.37:g.227660886delG	ENSP00000304895:p.Arg857fs						p.R857fs	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3589	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	857						Frame_Shift_Del	DEL	ENST00000305123.5	37	c.2569delC	CCDS2463.1																																																																																				0.662	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		66	363						66	363	---	---	---	---
CCL20	6364	broad.mit.edu	37	2	228680168	228680168	+	Splice_Site	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:228680168delA	ENST00000358813.4	+	2	134		c.e2-1		CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Intron			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20						cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TTTTTTTTTTAGCAGCAAGCA	0.373																																						ENST00000358813.4																			0				cervix(1)|lung(2)	3						c.e2-1		chemokine (C-C motif) ligand 20							64.0	75.0	71.0					2																	228680168		2203	4300	6503	SO:0001630	splice_region_variant	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228680168delA	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.77-1A>-	2.37:g.228680168delA						CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Intron				P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	2	134	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)						Q53S51|Q99664	Splice_Site	DEL	ENST00000358813.4	37		CCDS2469.1																																																																																				0.373	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591	Intron	7	661						7	661	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T	rs572063854		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1.0			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		7	298						7	298	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241700765	241700776	+	In_Frame_Del	DEL	CCAGCTCACACT	CCAGCTCACACT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:241700765_241700776delCCAGCTCACACT	ENST00000320389.7	-	23	2266_2277	c.2108_2119delAGTGTGAGCTGG	c.(2107-2121)gagtgtgagctggcg>gcg	p.ECEL703del	KIF1A_ENST00000498729.2_In_Frame_Del_p.ECEL712del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	703					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)		GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT	0.632																																						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.(2134-2148)gcg>g		kinesin family member 1A																																				SO:0001651	inframe_deletion	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241700765_241700776delCCAGCTCACACT	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.2108_2119delAGTGTGAGCTGG	2.37:g.241700765_241700776delCCAGCTCACACT	ENSP00000322791:p.Glu703_Leu706del					KIF1A_ENST00000320389.7_In_Frame_Del_p.ECELA703del	p.ECELA712del	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)	24	2381_2392	-		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)	703					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	ENST00000320389.7	37	c.2135_2146delAGTGTGAGCTGG	CCDS46561.1																																																																																				0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		32	168						32	168	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:33602361delT	ENST00000468888.2	-	28	2939	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_ENST00000399362.4_Frame_Shift_Del_p.M964fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	745	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2890-2892)tgfs		cytoplasmic linker associated protein 2							188.0	194.0	192.0					3																	33602361		1841	4103	5944	SO:0001589	frameshift_variant	23122							g.chr3:33602361delT	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2893delA	3.37:g.33602361delT	ENSP00000419974:p.Met965fs					CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs	p.M964fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3243	-			966					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Frame_Shift_Del	DEL	ENST00000468888.2	37	c.2890delA																																																																																					0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		8	703						8	703	---	---	---	---
PARP3	10039	broad.mit.edu	37	3	51978150	51978152	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:51978150_51978152delAAC	ENST00000417220.2	+	4	717_719	c.229_231delAAC	c.(229-231)aacdel	p.N80del	PARP3_ENST00000398755.3_In_Frame_Del_p.N87del|PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|RRP9_ENST00000232888.6_5'Flank			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	80				N -> K (in Ref. 2; AAD29855). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAACATCGAGAACAACAACAACA	0.596																																						ENST00000417220.2																			0				ovary(1)	1						c.(229-231)del		poly (ADP-ribose) polymerase family, member 3			,	10,3992		5,0,1996					,	-7.6	0.0			201	34,8036		15,4,4016	no	coding,coding	PARP3	NM_005485.4,NM_001003931.2	,	20,4,6012	A1A1,A1R,RR		0.4213,0.2499,0.3645	,	,		44,12028				SO:0001651	inframe_deletion	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978150_51978152delAAC	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.229_231delAAC	3.37:g.51978159_51978161delAAC	ENSP00000395951:p.Asn80del					PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del	p.N80del			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	717_719	+			80	N -> K (in Ref. 2; AAD29855).				Q8NER9|Q96CG2|Q9UG81	In_Frame_Del	DEL	ENST00000417220.2	37	c.229_231delAAC	CCDS43097.1																																																																																				0.596	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		7	922						7	922	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77657037	77657038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:77657037_77657038insC	ENST00000461745.1	+	21	4125_4126	c.3225_3226insC	c.(3226-3228)cccfs	p.P1076fs	ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.P1092fs|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.P1076fs|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1076					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431																																						ENST00000461745.1																			2	Insertion - Frameshift(2)	p.V1079fs*22(1)|p.V1095fs*22(1)	biliary_tract(2)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3223-3228)ccccccfs		roundabout, axon guidance receptor, homolog 2 (Drosophila)			,	35,3481		0,35,1723					,	5.9	1.0			72	22,7778		0,22,3878	no	frameshift,frameshift	ROBO2	NM_002942.4,NM_001128929.2	,	0,57,5601	A1A1,A1R,RR		0.2821,0.9954,0.5037	,	,		57,11259				SO:0001589	frameshift_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77657037_77657038insC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3233dupC	3.37:g.77657045_77657045dupC	ENSP00000417164:p.Pro1076fs					ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.PP1091fs|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.PP1075fs|ROBO2_ENST00000469233.1_3'UTR	p.PP1075fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	21	4125_4126	+			1075					O43608|Q19AB4|Q19AB5	Frame_Shift_Ins	INS	ENST00000461745.1	37	c.3225_3226insC	CCDS43109.1																																																																																				0.431	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	267						7	267	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		10	266						10	266	---	---	---	---
GABRR3	200959	broad.mit.edu	37	3	97744540	97744540	+	RNA	DEL	A	A	-	rs558209431	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:97744540delA	ENST00000472788.1	-	0	127					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CCCCAAAGGGAAAAAAAAAAC	0.373																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3				36,71,3383		1,0,34,0,71,1639	88.0	83.0	85.0			-2.2	0.0	3		87	82,155,7573		0,0,82,1,153,3669	no	intron	GABRR3	NM_001105580.2		1,0,116,1,224,5308	A1A1,A1A2,A1R,A2A2,A2R,RR		3.0346,3.0659,3.0442			97744540	118,226,10956	1804	4070	5874			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97744540delA	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744540delA								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	127	-								Q9UIV9	RNA	DEL	ENST00000472788.1	37																																																																																						0.373	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			7	125						7	125	---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125647339	125647339	+	IGR	DEL	C	C	-	rs200677662		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:125647339delC	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCAGGCCAGGCCAGGA	0.557																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647339delC	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647339delC								NR_024251.1						0	484	+								D3DNA5	RNA	DEL	ENST00000340333.3	37		CCDS33840.1																																																																																				0.557	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		7	511						7	511	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	455						7	455	---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160156368	160156368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:160156368delT	ENST00000309784.4	-	3	789	c.604delA	c.(604-606)agtfs	p.S202fs	RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S202fs|TRIM59_ENST00000543469.1_Frame_Shift_Del_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTAGGAAACTTTTTTTTTTC	0.343																																						ENST00000543469.1																			1	Deletion - Frameshift(1)	p.S202fs*3(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(604-606)gtfs		tripartite motif containing 59							59.0	62.0	61.0					3																	160156368		2195	4299	6494	SO:0001589	frameshift_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156368delT	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.604delA	3.37:g.160156368delT	ENSP00000311219:p.Ser202fs					RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S202fs|TRIM59_ENST00000309784.4_Frame_Shift_Del_p.S202fs	p.S202fs			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	818	-			202					A8K5G9|D3DNL9	Frame_Shift_Del	DEL	ENST00000309784.4	37	c.604delA	CCDS3190.1																																																																																				0.343	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		21	514						21	514	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194147850	194147850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:194147850delA	ENST00000439040.1	-	29	3870	c.3079delT	c.(3079-3081)tggfs	p.W1027fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1027						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGTTTGACCCAAAAAAAACCC	0.383																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3079-3081)ggfs		ATPase type 13A3							64.0	63.0	63.0					3																	194147850		1809	4080	5889	SO:0001589	frameshift_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194147850delA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3079delT	3.37:g.194147850delA	ENSP00000416508:p.Trp1027fs					ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs	p.W1027fs			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	29	3870	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1027					Q8NC11|Q96KS1	Frame_Shift_Del	DEL	ENST00000439040.1	37	c.3079delT	CCDS43187.1																																																																																				0.383	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	496						7	496	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195595229	195595229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:195595229delG	ENST00000333602.6	-	12	2512	c.1895delC	c.(1894-1896)ccgfs	p.P633fs	TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	633	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ATAGGCGGGCGGGGGGGGCAG	0.726																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)cgfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)		,	57,29,3456		3,0,51,1,27,1689	18.0	26.0	23.0		,	-7.3	0.7	3		23	60,57,7473		4,0,52,7,43,3689	no	codingComplex,codingComplex	TNK2	NM_005781.4,NM_001010938.1	,	7,0,103,8,70,5378	A1A1,A1A2,A1R,A2A2,A2R,RR		1.5415,2.428,1.8236	,	,	195595229	117,86,10929	1964	4101	6065	SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595229delG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1895delC	3.37:g.195595229delG	ENSP00000329425:p.Pro633fs					TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs	p.P633fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2512	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	633	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	ENST00000333602.6	37	c.1895delC	CCDS33928.1																																																																																				0.726	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		7	392						7	392	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		7	648						7	648	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		8	376						8	376	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_ENST00000505695.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.G582fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564																																						ENST00000513610.1																			1	Insertion - Frameshift(1)	p.S1226fs*25(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3673-3675)gtcfs		myosin X				37,3583		4,29,1777						2.5	1.0			84	28,7806		3,22,3892	no	frameshift	MYO10	NM_012334.2		7,51,5669	A1A1,A1R,RR		0.3574,1.0221,0.5675				65,11389				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694605_16694606insC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3675dupG	5.37:g.16694613_16694613dupC	ENSP00000421280:p.Gly1225fs					MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs	p.V1225fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4128_4129	-			1225			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	ENST00000513610.1	37	c.3674_3675insG	CCDS54834.1																																																																																				0.564	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		8	503						8	503	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		11	553						11	553	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26428451	26428451	+	RNA	DEL	A	A	-	rs139821417|rs79568516		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:26428451delA	ENST00000466808.2	+	0	1304							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											gtgtctaattaaaaaaaaaaa	0.448																																						ENST00000466808.2																			0																																																			0							g.chr6:26428451delA	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.26428451delA														0	1304	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.448	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		3	4						3	4	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		7	345						7	345	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				10	693						10	693	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5419-5421)cagfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs					REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs	p.Q1807fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6236_6237	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5420_5421insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		7	908						7	908	---	---	---	---
WTAP	9589	broad.mit.edu	37	6	160163179	160163180	+	Splice_Site	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:160163179_160163180insT	ENST00000358372.4	+	4	1902		c.e4+1		WTAP_ENST00000337387.4_Splice_Site|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATCTTAACTGTAAGTTTGAGT	0.282																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.e4+1		Wilms tumor 1 associated protein																																				SO:0001630	splice_region_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160163179_160163180insT	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.145+1->T	6.37:g.160163180_160163180dupT						SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Splice_Site		NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	4	1902	+		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Splice_Site	INS	ENST00000358372.4	37		CCDS5266.1																																																																																				0.282	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	Intron	66	232						66	232	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-	rs376153797		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.640	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	47						7	47	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:24705666delA	ENST00000222644.5	+	8	1160	c.910delA	c.(910-912)aaafs	p.K308fs	MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATAAGTAGCAAAAAAAAGAA	0.299																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(910-912)aafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							88.0	103.0	98.0					7																	24705666		2198	4295	6493	SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705666delA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.910delA	7.37:g.24705666delA	ENSP00000222644:p.Lys308fs					MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs	p.K308fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1209	+			308					B2RAF0	Frame_Shift_Del	DEL	ENST00000222644.5	37	c.910delA	CCDS5388.1																																																																																				0.299	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			7	1441						7	1441	---	---	---	---
ZNF733P	643955	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C	rs373405087|rs368825314	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1				zinc finger protein 733, pseudogene																		GCATAGGGTTTTCTCTAGTATG	0.421													|||unknown(LONG_INSERTION)	63	0.0125799	0.0371	0.0	5008	,	,		19012	0.0109		0.003	False		,,,				2504	0.0					ENST00000331425.6																			0																																																			0							g.chr7:62752415_62752416insC			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752415_62752416insC								NR_003952.1						0	1019_1020	-									RNA	INS	ENST00000331425.6	37																																																																																						0.421	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			10	506						10	506	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150713	65150714	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:65150713_65150714insA	ENST00000430126.2	+	0	694_695							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		CATACCATGAGAAAATCTCTAA	0.436																																						ENST00000430126.2																			0																																																			0							g.chr7:65150713_65150714insA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150717_65150717dupA														0	694_695	+									RNA	INS	ENST00000430126.2	37																																																																																						0.436	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		7	124						7	124	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			0							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		17	38						17	38	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72286070	72286071	+	RNA	INS	-	-	A	rs190457972|rs199646023	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72286070_72286071insA	ENST00000435769.2	-	0	258				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CCTAATAGGACAAAAAAAAACT	0.381																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72286070_72286071insA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72286079_72286079dupA										Q6NUM6	TYW1B_HUMAN			0	234	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.381	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		8	348						8	348	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1600-1602)ttfs		putative homeodomain transcription factor 2							155.0	145.0	148.0					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569581delT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs					PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs	p.F535fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1726	+			569					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.1600delT																																																																																					0.303	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		10	876						10	876	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595446	82595447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:82595446_82595447insT	ENST00000333891.9	-	4	3994_3995	c.3657_3658insA	c.(3655-3660)aaactafs	p.L1220fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.L1220fs	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						TCAGGGATTAGTTTTTTTTCTT	0.386																																						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.(3655-3660)aataatfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595446_82595447insT	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.3658dupA	7.37:g.82595454_82595454dupT	ENSP00000334319:p.Leu1220fs					PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs	p.NN1219fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3994_3995	-			1158						Frame_Shift_Ins	INS	ENST00000333891.9	37	c.3657_3658insA	CCDS47630.1																																																																																				0.386	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	1299						8	1299	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:91752494delT	ENST00000003100.8	-	7	1191	c.1026delA	c.(1024-1026)aaafs	p.K342fs	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	336					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTAAATAACATTTTTTTTGAA	0.398																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(1024-1026)aafs		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						119.0	123.0	121.0					7																	91752494		2203	4300	6503	SO:0001589	frameshift_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91752494delT	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1026delA	7.37:g.91752494delT	ENSP00000003100:p.Lys342fs					CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR	p.K342fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1191	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		336					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Frame_Shift_Del	DEL	ENST00000003100.8	37	c.1026delA	CCDS5623.1																																																																																				0.398	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			7	1107						7	1107	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000437572.1_5'Flank	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		8	804						8	804	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102584992	102584993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:102584992_102584993insA	ENST00000339431.4	+	4	1559_1560	c.1264_1265insA	c.(1264-1266)gaafs	p.E422fs	LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	422					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGATGAATGGGAAAAAAAACAT	0.337																																						ENST00000339431.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1264-1266)aaafs		leucine rich repeat containing 17																																				SO:0001589	frameshift_variant	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102584992_102584993insA	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1272dupA	7.37:g.102585000_102585000dupA	ENSP00000344242:p.Glu422fs					LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron	p.K422fs	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN			4	1559_1560	+			422					Q13288|Q6UWA7|Q75MG5	Frame_Shift_Ins	INS	ENST00000339431.4	37	c.1264_1265insA	CCDS34721.1																																																																																				0.337	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		8	658						8	658	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)aaggatfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(538-543)tfs		wingless-type MMTV integration site family member 2																																				SO:0001589	frameshift_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955171_116955175delTCCTT	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.538_542delAAGGA	7.37:g.116955181_116955185delTCCTT	ENSP00000265441:p.Lys180fs					AC002465.2_ENST00000436097.1_RNA	p.KD180fs	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	837_841	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		180					A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	c.538_542delAAGGA	CCDS5771.1																																																																																				0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		8	807						8	807	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:142482025delA	ENST00000603901.1	+	0	591					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)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	100						7	100	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46.0	59.0	55.0			-4.1	1.0	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	1332						7	1332	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134.0	143.0	140.0					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		7	853						7	853	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	749						10	749	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T	rs7841915	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aaattgfs	p.L1163fs	RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3484-3489)aatggcfs		regulator of G-protein signaling 22																																				SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990177_100990178insT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3487dupA	8.37:g.100990186_100990186dupT	ENSP00000354109:p.Leu1163fs					RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs	p.NG1162fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3680_3681	-			1162					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Ins	INS	ENST00000360863.6	37	c.3486_3487insA	CCDS43758.1																																																																																				0.312	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		9	295						9	295	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124707761	124707762	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:124707761_124707762insT	ENST00000419625.1	-	6	523_524	c.451_452insA	c.(451-453)atcfs	p.I151fs	ANXA13_ENST00000262219.6_Frame_Shift_Ins_p.I192fs	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGACACCAGGATTTTTTTTAGG	0.411																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(574-576)cctfs		annexin A13																																				SO:0001589	frameshift_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124707761_124707762insT	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.452dupA	8.37:g.124707769_124707769dupT	ENSP00000390809:p.Ile151fs					ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs	p.P192fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	641_642	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		151					Q9BQR5	Frame_Shift_Ins	INS	ENST00000419625.1	37	c.574_575insA	CCDS47917.1																																																																																				0.411	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		7	802						7	802	---	---	---	---
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs375030402|rs550666541	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aaaaagfs	p.KK187fs	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	187						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309														73	0.0145767	0.0	0.0086	5008	,	,		20736	0.003		0.0239	False		,,,				2504	0.0409					ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(559-564)aafs		ankyrin repeat domain 20 family, member A1																																				SO:0001589	frameshift_variant	84210							g.chr9:67934791_67934794delAAAG	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.561_564delAAAG	9.37:g.67934795_67934798delAAAG	ENSP00000366697:p.Lys187fs						p.KK187fs	NM_032250.3	NP_115626.2					4	673_676	+								Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	c.561_564delAAAG	CCDS6620.1																																																																																				0.309	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			7	29						7	29	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		17	244						17	244	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135277388	135277388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:135277388delT	ENST00000334270.2	-	2	860	c.821delA	c.(820-822)aagfs	p.K274fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	274	Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTCTTAGACTTTTTTTTGTG	0.473																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(820-822)agfs		transcription termination factor, RNA polymerase I							71.0	76.0	74.0					9																	135277388		2203	4300	6503	SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277388delT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.821delA	9.37:g.135277388delT	ENSP00000333920:p.Lys274fs						p.K274fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	860	-		Myeloproliferative disorder(178;0.204)	274			Poly-Lys.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Del	DEL	ENST00000334270.2	37	c.821delA	CCDS6948.1																																																																																				0.473	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		7	575						7	575	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-	rs368995487		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	296						7	296	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		10	483						10	483	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		7	622						7	622	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:14284600delA	ENST00000534587.1	-	0	38				SPON1_ENST00000310358.7_RNA																							GGACCTGTTTaaaaaaaaaaa	0.463																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284600delA																													11.37:g.14284600delA						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2795	+									RNA	DEL	ENST00000534587.1	37																																																																																						0.463	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			9	59						9	59	---	---	---	---
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:14529252_14529254delCAT	ENST00000396394.2	-	9	1079_1081	c.683_685delATG	c.(682-687)gatgtg>gtg	p.D228del	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.D234del|PSMA1_ENST00000530457.1_In_Frame_Del_p.D203del|PSMA1_ENST00000396393.1_In_Frame_Del_p.D228del|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000555531.1_3'UTR	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.36																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(607-612)gtg>g		proteasome (prosome, macropain) subunit, alpha type, 1																																				SO:0001651	inframe_deletion	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14529252_14529254delCAT	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.683_685delATG	11.37:g.14529261_14529263delCAT	ENSP00000379676:p.Asp228del					PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000524606.1_5'UTR	p.DV203del			P25786	PSA1_HUMAN			9	1138_1140	-			228					A8K400|Q53YE8|Q9BRV9	In_Frame_Del	DEL	ENST00000396394.2	37	c.608_610delATG	CCDS7816.1																																																																																				0.360	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		8	543						8	543	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.660	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	346						7	346	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		10	588						10	588	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1368)tat>t		Cbl proto-oncogene, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149356_119149358delATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1364_1366delATG	11.37:g.119149365_119149367delATG	ENSP00000264033:p.Asp460del						p.YD455del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1740_1742	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	455			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.1364_1366delATG	CCDS8418.1																																																																																				0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		10	317						10	317	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-	rs200312236|rs202119309		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)tctdel	p.S52del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	52						extracellular region (GO:0005576)		p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557																																						ENST00000389362.4																			3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)	stomach(3)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(154-156)del		proline-rich protein BstNI subfamily 2				14,4130		3,8,2061						1.0	0.0			144	22,8112		1,20,4046	no	coding	PRB2	NM_006248.3		4,28,6107	A1A1,A1R,RR		0.2705,0.3378,0.2932				36,12242				SO:0001651	inframe_deletion	653247							g.chr12:11546856_11546858delAGA	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.154_156delTCT	12.37:g.11546856_11546858delAGA	ENSP00000374013:p.Ser52del					PRB1_ENST00000546254.1_Intron	p.S52del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_191	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.154_156delTCT	CCDS41757.2																																																																																				0.557	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	794						7	794	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239.0	258.0	252.0			2.0	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		7	895						7	895	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	171						7	171	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1.0			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	257						8	257	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		23	1671						23	1671	---	---	---	---
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-	rs188092231|rs369463367		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_In_Frame_Del_p.E103del	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	626						7	626	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		12	369						12	369	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46543660	46543661	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:46543660_46543661insT	ENST00000242848.4	-	14	3366_3367	c.3018_3019insA	c.(3016-3021)aaacgtfs	p.R1007fs	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.R1007fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1007	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1007fs*2(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTTTTACGTTTTTTTTCAA	0.371																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Insertion - Frameshift(1)	p.R1007fs*2(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3016-3021)aagtaafs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46543660_46543661insT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3019dupA	13.37:g.46543668_46543668dupT	ENSP00000242848:p.Arg1007fs					ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.*1007fs	p.*1007fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3366_3367	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1007			Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Ins	INS	ENST00000242848.4	37	c.3018_3019insA																																																																																					0.371	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		9	529						9	529	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138110	20138110	+	RNA	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:20138110delT	ENST00000548261.1	+	0	391																											GGGAACTTCCTCCACTCCTTT	0.488																																						ENST00000548261.1																			0																																																			0							g.chr14:20138110delT																													14.37:g.20138110delT														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.488	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			24	850						24	850	---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67389496	67389497	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:67389496_67389497insC	ENST00000315266.5	+	7	1691_1692	c.570_571insC	c.(571-573)cccfs	p.P191fs	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Frame_Shift_Ins_p.P173fs|GPHN_ENST00000543237.1_Frame_Shift_Ins_p.P204fs|GPHN_ENST00000478722.1_Frame_Shift_Ins_p.P191fs|GPHN_ENST00000305960.9_Frame_Shift_Ins_p.P160fs	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	191	Interaction with GABARAP. {ECO:0000250}.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTTCCCCACCTCCCCCTCTTTC	0.47			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(568-573)ccccccfs		gephyrin																																				SO:0001589	frameshift_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67389496_67389497insC	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.575dupC	14.37:g.67389501_67389501dupC	ENSP00000312771:p.Pro191fs					GPHN_ENST00000543237.1_Frame_Shift_Ins_p.PP203fs|GPHN_ENST00000305960.9_Frame_Shift_Ins_p.PP159fs|GPHN_ENST00000459628.1_Frame_Shift_Ins_p.PP172fs|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Frame_Shift_Ins_p.PP190fs	p.PP190fs	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	7	1691_1692	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	190			Interaction with GABARAP (By similarity).		Q9H4E9|Q9P2G2	Frame_Shift_Ins	INS	ENST00000315266.5	37	c.570_571insC	CCDS32103.1																																																																																				0.470	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		10	690						10	690	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		11	150						11	150	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25481200	25481201	+	RNA	INS	-	-	T	rs553888421|rs372124317|rs561626775		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:25481200_25481201insT	ENST00000453082.2	+	0	1934				SNORD115-36_ENST00000365629.1_RNA|SNORD115-35_ENST00000365122.1_RNA|SNORD115-37_ENST00000363768.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCCACTGGAAGTTTTTTTTGCG	0.51																																						ENST00000453082.2																			0																																																			0							g.chr15:25481200_25481201insT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25481208_25481208dupT								NR_003343.1						0	1934	+									RNA	INS	ENST00000453082.2	37																																																																																						0.510	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			10	770						10	770	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		11	775						11	775	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		21	374						21	374	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gaggat>gat	p.E214del	VPS33B_ENST00000535906.1_In_Frame_Del_p.E187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.E123del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	214					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(640-645)gat>ga		vacuolar protein sorting 33 homolog B (yeast)																																				SO:0001651	inframe_deletion	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91550236_91550238delTCC	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.642_644delGGA	15.37:g.91550245_91550247delTCC	ENSP00000327650:p.Glu214del					VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del	p.ED214del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			9	995_997	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		214					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	In_Frame_Del	DEL	ENST00000333371.3	37	c.642_644delGGA	CCDS10369.1																																																																																				0.522	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		7	673						7	673	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		18	1146						18	1146	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		16	1261						16	1261	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1759-1764)gcc>gc		solute carrier family 5 (sodium/inositol cotransporter), member 11				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del	p.AS587del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	2383_2385	+			587						In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		11	341						11	341	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	360						7	360	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	393						8	393	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)ggcdel	p.G3527del	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		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)			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)				AGTGGTACGAgccgccgccgccg	0.69																																						ENST00000268489.5																			0				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.(10579-10581)del		zinc finger homeobox 3																																				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.chr16:72821594_72821596delGCC	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.10579_10581delGGC	16.37:g.72821603_72821605delGCC	ENSP00000268489:p.Gly3527del					AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del	p.G3527del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11251_11253	-		Ovarian(137;0.13)	3527		G -> GGG.	Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10579_10581delGGC	CCDS10908.1																																																																																				0.690	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	390						8	390	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7801857_7801859delAAG	ENST00000330494.7	+	13	2245_2247	c.2095_2097delAAG	c.(2095-2097)aagdel	p.K703del	CHD3_ENST00000380358.4_In_Frame_Del_p.K762del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	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		9	181						9	181	---	---	---	---
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	lincRNA	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.45																																						ENST00000379640.1																			0																	4,4260		0,4,2128						0.2	0.0			65	15,8239		0,15,4112	no	intergenic				0,19,6240	A1A1,A1R,RR		0.1817,0.0938,0.1518				19,12499						0							g.chr17:14673542_14673543insT																													17.37:g.14673551_14673551dupT														0	354_355	-									RNA	INS	ENST00000379640.1	37																																																																																						0.450	AC005863.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000130001.1			7	192						7	192	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		13	268						13	268	---	---	---	---
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-	rs376633756		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.46_47CG>W	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606																																						ENST00000398470.1																			0				breast(1)|lung(3)	4						c.(286-291)tgc>t		keratin associated protein 9-1																																				SO:0001651	inframe_deletion	0					keratin filament		g.chr17:39346425_39346427delGTG	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.287_289delGTG	17.37:g.39346425_39346427delGTG	ENSP00000381488:p.Gly97del					KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron	p.CG96del	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN			1	287_289	+			96			30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].			In_Frame_Del	DEL	ENST00000398470.1	37	c.287_289delGTG	CCDS56029.1																																																																																				0.606	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1			7	108						7	108	---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:40370236delG	ENST00000293328.3	-	9	1270	c.1102delC	c.(1102-1104)cagfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1102-1104)agfs		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						109.0	87.0	94.0					17																	40370236		2203	4300	6503	SO:0001589	frameshift_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370236delG	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1102delC	17.37:g.40370236delG	ENSP00000293328:p.Gln368fs						p.Q368fs	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1270	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	368					Q8WWS8	Frame_Shift_Del	DEL	ENST00000293328.3	37	c.1102delC	CCDS11423.1																																																																																				0.577	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		10	279						10	279	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			7	89						7	89	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			9	639						9	639	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		8	194						8	194	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30913142	30913143	+	Frame_Shift_Ins	INS	-	-	T	rs535192849		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:30913142_30913143insT	ENST00000383096.3	-	10	1056_1057	c.874_875insA	c.(874-876)atgfs	p.M292fs	CCDC178_ENST00000300227.8_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000406524.2_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000402325.1_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000583930.1_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Ins_p.M292fs			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	292								p.M292fs*3(2)									ATTTACCTCCATTTTTTTTTTA	0.317																																						ENST00000383096.3																			2	Deletion - Frameshift(2)	p.M292fs*3(2)	lung(2)								c.(874-876)ggafs		coiled-coil domain containing 178																																				SO:0001589	frameshift_variant	374864							g.chr18:30913142_30913143insT	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.875dupA	18.37:g.30913152_30913152dupT	ENSP00000372576:p.Met292fs					CCDC178_ENST00000300227.8_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000583930.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000406524.2_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000403303.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000402325.1_Frame_Shift_Ins_p.G292fs	p.G292fs							10	1056_1057	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Frame_Shift_Ins	INS	ENST00000383096.3	37	c.874_875insA	CCDS42424.1																																																																																				0.317	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		9	136						9	136	---	---	---	---
MLLT1	4298	broad.mit.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:6222272_6222274delAGG	ENST00000252674.7	-	6	1131_1133	c.968_970delCCT	c.(967-972)tccttc>ttc	p.S323del		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	323	Poly-Ser.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.65			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(967-972)ttc>t		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1				15,4239		1,13,2113						2.5	0.9			35	38,8216		0,38,4089	no	coding	MLLT1	NM_005934.3		1,51,6202	A1A1,A1R,RR		0.4604,0.3526,0.4237				53,12455				SO:0001651	inframe_deletion	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222272_6222274delAGG		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.968_970delCCT	19.37:g.6222281_6222283delAGG	ENSP00000252674:p.Ser323del						p.SF323del	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			6	1131_1133	-			323			Poly-Ser.		Q14768	In_Frame_Del	DEL	ENST00000252674.7	37	c.968_970delCCT	CCDS12160.1																																																																																				0.650	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		8	173						8	173	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155625	12155625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:12155625delT	ENST00000547628.1	-	4	728	c.591delA	c.(589-591)aaafs	p.K197fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Del_p.K244fs|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	197					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ATTCATAGGGTTTTTTTGCAG	0.398																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(730-732)aafs		zinc finger protein 878							134.0	151.0	145.0					19																	12155625		2158	4283	6441	SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155625delT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.591delA	19.37:g.12155625delT	ENSP00000447931:p.Lys197fs					CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K197fs	p.K244fs			C9JN71	ZN878_HUMAN			5	731	-			197						Frame_Shift_Del	DEL	ENST00000547628.1	37	c.732delA	CCDS45984.2																																																																																				0.398	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		9	1144						9	1144	---	---	---	---
CCDC130	81576	broad.mit.edu	37	19	13873132	13873134	+	In_Frame_Del	DEL	AGG	AGG	-	rs148655062		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:13873132_13873134delAGG	ENST00000586600.1	+	10	1096_1098	c.593_595delAGG	c.(592-597)caggag>cag	p.E202del	MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000221554.8_In_Frame_Del_p.E202del|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	202					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAAGCCATCCAGGAGGAGGAGGA	0.586																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(592-597)cag>c		coiled-coil domain containing 130																																				SO:0001651	inframe_deletion	81576				response to virus		protein binding	g.chr19:13873132_13873134delAGG	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.593_595delAGG	19.37:g.13873141_13873143delAGG	ENSP00000465776:p.Glu202del					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del	p.QE198del			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		10	1096_1098	+			198					Q9BQ72	In_Frame_Del	DEL	ENST00000586600.1	37	c.593_595delAGG	CCDS12296.1																																																																																				0.586	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		10	528						10	528	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-	rs533574046|rs539350022	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctggag>ctg	p.E971del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	971					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.66																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2896-2901)ctg>ct		DEAH (Asp-Glu-Ala-His) box polypeptide 34																																				SO:0001651	inframe_deletion	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883158_47883160delGGA	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2898_2900delGGA	19.37:g.47883167_47883169delGGA	ENSP00000331907:p.Glu971del						p.LE966del	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3247_3249	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	966					B4DMY8	In_Frame_Del	DEL	ENST00000328771.4	37	c.2898_2900delGGA	CCDS12700.1																																																																																				0.660	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		10	265						10	265	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		13	57						13	57	---	---	---	---
MIR517C	574492	broad.mit.edu	37	19	54245814	54245815	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54245814_54245815insA	ENST00000385103.1	+	0	95				MIR520H_ENST00000385126.1_RNA|RNU6-982P_ENST00000516216.1_RNA	NR_030214.1				microRNA 517c																		TGTTGTCTGAGAAAAAACAAAG	0.416																																						ENST00000385126.1																			0																																																			0							g.chr19:54245814_54245815insA			19q13.42	2011-09-12		2008-12-18	ENSG00000207838	ENSG00000207838		"""ncRNAs / Micro RNAs"""	32124	non-coding RNA	RNA, micro				MIRN517C			Standard	NR_030214		Approved	hsa-mir-517c	uc021var.1				19.37:g.54245820_54245820dupA								NR_030215.1						0	49_50	+									RNA	INS	ENST00000385103.1	37																																																																																						0.416	MIR517C-201	KNOWN	basic	miRNA	miRNA		NR_030214		103	777						103	777	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	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			16	603						16	603	---	---	---	---
TFAP2C	7022	broad.mit.edu	37	20	55212855	55212856	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:55212855_55212856delCA	ENST00000201031.2	+	7	1382_1383	c.1139_1140delCA	c.(1138-1140)ccafs	p.P380fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	380	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGGCTCGCCCCAGTCTTGGAGA	0.55																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1138-1140)cfs		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)																																				SO:0001589	frameshift_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55212855_55212856delCA		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1139_1140delCA	20.37:g.55212855_55212856delCA	ENSP00000201031:p.Pro380fs					TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	p.P380fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		7	1382_1383	+			380			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Frame_Shift_Del	DEL	ENST00000201031.2	37	c.1139_1140delCA	CCDS13454.1																																																																																				0.550	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		156	377						156	377	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(508-510)del		mediator complex subunit 15			,	5,56,4109		0,0,5,0,56,2024					,	3.4	1.0			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918793_20918795delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del	p.Q174del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	577_579	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	174			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.508_510delCAG	CCDS33602.1																																																																																				0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	216						8	216	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	713						10	713	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121861	38121862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:38121861_38121862insC	ENST00000406386.3	+	7	3553_3554	c.3298_3299insC	c.(3298-3300)tccfs	p.S1100fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1100					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.S1100F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCAGTGTCAGTCCCCCCAACAC	0.663																																						ENST00000406386.3																			1	Substitution - Missense(1)	p.S1100F(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3298-3300)cccfs		TRIO and F-actin binding protein																																				SO:0001589	frameshift_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121861_38121862insC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3304dupC	22.37:g.38121867_38121867dupC	ENSP00000384312:p.Ser1100fs					RP1-37E16.12_ENST00000455236.1_RNA	p.P1100fs	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3553_3554	+	Melanoma(58;0.0574)		1100					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Ins	INS	ENST00000406386.3	37	c.3298_3299insC	CCDS43015.1																																																																																				0.663	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	1065						8	1065	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117.0	111.0	113.0					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		7	301						7	301	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		7	436						7	436	---	---	---	---
