#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
ZNF845	91664	broad.mit.edu	37	19	53848784	53848784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53848784C>T	ENST00000595091.1	+	4	260	c.41C>T	c.(40-42)gCc>gTc	p.A14V	ZNF845_ENST00000458035.1_Missense_Mutation_p.A14V			Q96IR2	ZN845_HUMAN	zinc finger protein 845	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGGGATGTGGCCATAGAATTC	0.453																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(40-42)gCc>gTc		zinc finger protein 845							92.0	87.0	89.0					19																	53848784		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848784C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.41C>T	19.37:g.53848784C>T	ENSP00000470005:p.Ala14Val					ZNF845_ENST00000595091.1_Missense_Mutation_p.A14V	p.A14V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			3	158	+			14			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.41C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632422	0.29068	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03301	3.98	1.85	0.738	0.18319	Krueppel-associated box (4);	.	.	.	.	T	0.14527	0.0351	M	0.86864	2.845	0.21675	N	0.999596	D	0.59767	0.986	P	0.61070	0.883	T	0.05370	-1.0889	9	0.72032	D	0.01	.	6.185	0.20491	0.0:0.822:0.0:0.178	.	14	Q96IR2	ZN845_HUMAN	V	14	ENSP00000388311:A14V	ENSP00000352990:A14V	A	+	2	0	ZNF845	58540596	0.731000	0.28111	0.946000	0.38457	0.152000	0.21847	0.873000	0.28052	0.133000	0.18654	0.134000	0.15878	GCC		0.453	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		35	652	0	0	0	1	0	35	652				
RDX	5962	broad.mit.edu	37	11	110108327	110108327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:110108327G>A	ENST00000343115.4	-	11	1460	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	381	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTTTTGCTCGTTTTCGTTCT	0.428																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1141-1143)Cga>Tga		radixin							181.0	172.0	175.0					11																	110108327		2201	4298	6499	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110108327G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1141C>T	11.37:g.110108327G>A	ENSP00000342830:p.Arg381*					RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*	p.R381*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	11	1460	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	381			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.1141C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	41	8.898136	0.98994	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	4.84	0.62591	.	0.354723	0.25230	N	0.032165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	14.7001	0.69150	0.0:0.0:0.7205:0.2795	.	.	.	.	X	381;381;34;381;245;51	.	ENSP00000342830:R381X	R	-	1	2	RDX	109613537	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.566000	0.36396	1.364000	0.46038	0.650000	0.86243	CGA		0.428	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		34	422	0	0	0	1	0	34	422				
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	rs201259366		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123.0	114.0	117.0					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His					EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR	p.R261H	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		6	683	0	0	0	1	0	6	683				
IFNAR2	3455	broad.mit.edu	37	21	34634926	34634926	+	Intron	SNP	C	C	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:34634926C>A	ENST00000342136.4	+	9	1166				IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000404220.3_Missense_Mutation_p.L301I|IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I|IFNAR2_ENST00000413881.1_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	tcataatgcactacagtctga	0.443																																						ENST00000404220.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(901-903)Cta>Ata		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						7.0	8.0	8.0					21																	34634926		1174	2274	3448	SO:0001627	intron_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34634926C>A		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.841-172C>A	21.37:g.34634926C>A						IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|IFNAR2_ENST00000413881.1_Intron|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I	p.L301I			P48551	INAR2_HUMAN			9	1230	+			0					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.901C>A	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635498	0.29068	.	.	ENSG00000159110	ENST00000382264;ENST00000404220	T;T	0.65549	-0.16;-0.16	0.784	-0.174	0.13319	.	.	.	.	.	T	0.76730	0.4028	M	0.92169	3.28	0.09310	N	1	D	0.60575	0.988	P	0.62184	0.899	T	0.64158	-0.6473	9	0.87932	D	0	.	2.9978	0.06004	0.0:0.6426:0.0:0.3574	.	301	P48551-2	.	I	301	ENSP00000371699:L301I;ENSP00000384309:L301I	ENSP00000371699:L301I	L	+	1	2	IFNAR2	33556796	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.750000	0.26334	-0.099000	0.12263	0.563000	0.77884	CTA		0.443	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			3	27	1	0	6.4e-05	1	6.69224e-05	3	27				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			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.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	217	0	0	0	1	0	6	217				
PRPH2	5961	broad.mit.edu	37	6	42689575	42689575	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(496-498)tgC>tgT		peripherin 2 (retinal degeneration, slow)							149.0	136.0	140.0					6																	42689575		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689575G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.498C>T	6.37:g.42689575G>A							p.C166C	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	737	-	Colorectal(47;0.196)		166					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.498C>T	CCDS4871.1																																																																																				0.507	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		6	565	0	0	0	1	0	6	565				
C3	718	broad.mit.edu	37	19	6692960	6692960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6692960G>A	ENST00000245907.6	-	26	3457	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1122					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TATCACGGGCGCATCCTCCTG	0.557																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3364-3366)gCg>gTg		complement component 3							120.0	125.0	123.0					19																	6692960		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6692960G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3365C>T	19.37:g.6692960G>A	ENSP00000245907:p.Ala1122Val						p.A1122V	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3457	-			1122					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3365C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535622	0.64972	.	.	ENSG00000125730	ENST00000245907	T	0.36340	1.26	5.88	-0.693	0.11298	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.399877	0.28082	N	0.016661	T	0.47673	0.1458	M	0.76574	2.34	0.22199	N	0.999292	D	0.54964	0.969	P	0.48166	0.569	T	0.61559	-0.7038	10	0.48119	T	0.1	.	21.3471	0.99952	0.0:0.223:0.777:0.0	.	1122	P01024	CO3_HUMAN	V	1122	ENSP00000245907:A1122V	ENSP00000245907:A1122V	A	-	2	0	C3	6643960	0.005000	0.15991	0.191000	0.23289	0.673000	0.39480	0.146000	0.16180	0.064000	0.16427	-0.147000	0.13772	GCG		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		6	864	0	0	0	1	0	6	864				
NPFF	8620	broad.mit.edu	37	12	53898955	53898955	+	IGR	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:53898955C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000266987.2_Missense_Mutation_p.A217V	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						AAGCGGAATGCGGCGGCCAAA	0.572																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(649-651)gCg>gTg		TAR (HIV-1) RNA binding protein 2							129.0	118.0	122.0					12																	53898955		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898955C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898955C>T						TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V	p.A217V	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			7	1133	+			217			DRBM 2.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.650C>T	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224601	0.95139	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.92495	-3.05;-3.05;-3.05	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97636	1.0145	10	0.87932	D	0	-16.1595	17.5584	0.87900	0.0:1.0:0.0:0.0	.	217	Q15633	TRBP2_HUMAN	V	217;196;196	ENSP00000266987:A217V;ENSP00000416077:A196V;ENSP00000377885:A196V	ENSP00000266987:A217V	A	+	2	0	TARBP2	52185222	0.999000	0.42202	0.518000	0.27811	0.879000	0.50718	4.317000	0.59184	2.759000	0.94783	0.561000	0.74099	GCG		0.572	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		5	618	0	0	0	1	0	5	618				
ACAN	176	broad.mit.edu	37	15	89386864	89386864	+	Missense_Mutation	SNP	G	G	A	rs545729531		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:89386864G>A	ENST00000561243.1	+	5	1036	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	ACAN_ENST00000439576.2_Missense_Mutation_p.A346T|ACAN_ENST00000352105.7_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T|ACAN_ENST00000559004.1_Missense_Mutation_p.A346T			P16112	PGCA_HUMAN	aggrecan	346	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGCTACGACGCCATCTGCTA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16915	0.0		0.0	False		,,,				2504	0.001					ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1036-1038)Gcc>Acc		aggrecan							50.0	53.0	52.0					15																	89386864		2010	4166	6176	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386864G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1036G>A	15.37:g.89386864G>A	ENSP00000453342:p.Ala346Thr					ACAN_ENST00000559004.1_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T|ACAN_ENST00000561243.1_Missense_Mutation_p.A346T|ACAN_ENST00000352105.7_Missense_Mutation_p.A346T	p.A346T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1410	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		346					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1036G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599722	0.87055	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.10763	2.84;2.84	5.56	5.56	0.83823	.	0.000000	0.32503	N	0.006009	T	0.39172	0.1068	M	0.82517	2.595	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.974	T	0.25047	-1.0143	10	0.72032	D	0.01	-24.3884	18.5257	0.90971	0.0:0.0:1.0:0.0	.	346;346;346	E7ENV9;E7EX88;Q6PID9	.;.;.	T	346	ENSP00000387356:A346T;ENSP00000341615:A346T	ENSP00000268134:A346T	A	+	1	0	ACAN	87187868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.639000	0.98448	2.626000	0.88956	0.650000	0.86243	GCC		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	475	0	0	0	1	0	5	475				
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G	rs199988926	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					ENST00000342960.5																			0				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.(3868-3870)caA>caG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	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.3870A>G	1.37:g.145325997A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.Q1290Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	193	0	0	0	1	0	4	193				
TRBV11-2	28581	broad.mit.edu	37	7	142197600	142197600	+	lincRNA	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:142197600G>A	ENST00000471935.1	-	0	377									T cell receptor beta variable 11-2																		ATACACGGCCGAGTCCTCAAG	0.507																																						ENST00000471935.1																			0																				154.0	152.0	153.0					7																	142197600		1960	4151	6111			0							g.chr7:142197600G>A	L36092		7q34	2012-02-07			ENSG00000241657	ENSG00000241657		"""T cell receptors / TRB locus"""	12181	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV112, TCRBV11S2, TCRBV21S3A2N2T			OTTHUMG00000158536		7.37:g.142197600G>A														0	377	-									RNA	SNP	ENST00000471935.1	37																																																																																						0.507	TRBV11-2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351242.2	NG_001333		38	908	0	0	0	1	0	38	908				
MRPS5	64969	broad.mit.edu	37	2	95767442	95767442	+	Missense_Mutation	SNP	G	G	A	rs376111435		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:95767442G>A	ENST00000272418.2	-	8	998	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	264	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCATCCATCCGATCAGTAGCT	0.338																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(790-792)Cgg>Tgg		mitochondrial ribosomal protein S5		G	TRP/ARG	0,4404		0,0,2202	50.0	48.0	49.0		790	4.4	0.3	2		49	1,8599		0,1,4299	no	missense	MRPS5	NM_031902.3	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	264/431	95767442	1,13003	2202	4300	6502	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95767442G>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.790C>T	2.37:g.95767442G>A	ENSP00000272418:p.Arg264Trp						p.R264W	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			8	998	-			264			S5 DRBM.		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.790C>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159629	0.38119	0.0	1.16E-4	ENSG00000144029	ENST00000272418	.	.	.	5.32	4.44	0.53790	Ribosomal protein S5, N-terminal, conserved site (1);Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.75447	2.3	0.58432	D	0.999997	D	0.67145	0.996	P	0.58970	0.849	T	0.69665	-0.5084	9	0.37606	T	0.19	-20.9735	11.6662	0.51374	0.0:0.0:0.8223:0.1777	.	264	P82675	RT05_HUMAN	W	264	.	ENSP00000272418:R264W	R	-	1	2	MRPS5	95131169	0.970000	0.33590	0.256000	0.24389	0.096000	0.18686	1.357000	0.34090	1.350000	0.45770	0.591000	0.81541	CGG		0.338	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		8	108	0	0	0	1	0	8	108				
EPHB1	2047	broad.mit.edu	37	3	134514513	134514513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:134514513G>A	ENST00000398015.3	+	1	410	c.40G>A	c.(40-42)Gca>Aca	p.A14T	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	14					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGGCATCCGCAGTGGCTGC	0.687																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(40-42)Gca>Aca		EPH receptor B1							74.0	80.0	78.0					3																	134514513		1990	4168	6158	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134514513G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.40G>A	3.37:g.134514513G>A	ENSP00000381097:p.Ala14Thr					EPHB1_ENST00000488154.1_3'UTR	p.A14T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			1	410	+			14					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.40G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180804	0.38511	.	.	ENSG00000154928	ENST00000398015	T	0.73152	-0.72	4.5	4.5	0.54988	.	0.872352	0.09539	N	0.788515	T	0.70290	0.3207	L	0.28400	0.85	0.80722	D	1	D;D	0.62365	0.991;0.959	P;P	0.52957	0.714;0.499	T	0.63554	-0.6611	10	0.32370	T	0.25	.	14.1131	0.65134	0.0:0.0:1.0:0.0	.	14;14	B5A969;P54762	.;EPHB1_HUMAN	T	14	ENSP00000381097:A14T	ENSP00000381097:A14T	A	+	1	0	EPHB1	135997203	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.577000	0.60922	2.046000	0.60703	0.561000	0.74099	GCA		0.687	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		6	710	0	0	0	1	0	6	710				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			0							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		7	506	0	0	0	1	0	7	506				
TTLL1	25809	broad.mit.edu	37	22	43459909	43459909	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:43459909G>A	ENST00000266254.7	-	7	897	c.657C>T	c.(655-657)tgC>tgT	p.C219C	TTLL1_ENST00000331018.7_Silent_p.C219C	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	219	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGCAGAACCGGCAAAACCCAA	0.458																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(655-657)tgC>tgT		tubulin tyrosine ligase-like family, member 1							197.0	185.0	189.0					22																	43459909		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43459909G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.657C>T	22.37:g.43459909G>A						TTLL1_ENST00000266254.7_Silent_p.C219C	p.C219C			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	7	897	-		Ovarian(80;0.0694)	219			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.657C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	9.861	1.196399	0.22037	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.98	1.04	0.20106	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	.	4.5385	0.12045	0.3534:0.0:0.4944:0.1523	.	.	.	.	V	145	.	.	A	-	2	0	TTLL1	41789853	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	2.311000	0.43717	0.359000	0.24239	0.591000	0.81541	GCC		0.458	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		6	583	0	0	0	1	0	6	583				
FAM135B	51059	broad.mit.edu	37	8	139165382	139165382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:139165382C>T	ENST00000395297.1	-	13	1506	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	446										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACAGTTATCTTCCTTGTCT	0.328										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1336-1338)Gat>Aat		family with sequence similarity 135, member B							58.0	56.0	57.0					8																	139165382		1853	4090	5943	SO:0001583	missense	51059							g.chr8:139165382C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1336G>A	8.37:g.139165382C>T	ENSP00000378710:p.Asp446Asn	HNSCC(54;0.14)					p.D446N	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1506	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		446					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1336G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	2.542	-0.306135	0.05458	.	.	ENSG00000147724	ENST00000395297	T	0.13778	2.56	5.6	3.44	0.39384	.	2.006110	0.01697	N	0.026948	T	0.10895	0.0266	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.257;0.157;0.094	B;B;B	0.26864	0.074;0.051;0.023	T	0.28427	-1.0044	10	0.17369	T	0.5	-5.0172	10.0861	0.42419	0.0:0.8112:0.0:0.1888	.	446;446;446	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	446	ENSP00000378710:D446N	ENSP00000276737:D446N	D	-	1	0	FAM135B	139234564	0.831000	0.29352	0.867000	0.34043	0.006000	0.05464	2.266000	0.43320	1.348000	0.45733	0.655000	0.94253	GAT		0.328	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		20	227	0	0	0	1	0	20	227				
GLIS1	148979	broad.mit.edu	37	1	53975547	53975547	+	Silent	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:53975547T>G	ENST00000312233.2	-	8	2078	c.1512A>C	c.(1510-1512)ccA>ccC	p.P504P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGGCGGGGGTGGAGGGCTCT	0.672																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1510-1512)ccA>ccC		GLIS family zinc finger 1							13.0	16.0	15.0					1																	53975547		2189	4285	6474	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53975547T>G	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1512A>C	1.37:g.53975547T>G							p.P504P	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			8	2078	-			504			Pro-rich.			Silent	SNP	ENST00000312233.2	37	c.1512A>C	CCDS582.1																																																																																				0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		21	94	0	0	0	1	0	21	94				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		8	280	0	0	0	1	0	8	280				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	293	0	0	0	1	0	5	293				
YTHDF1	54915	broad.mit.edu	37	20	61834082	61834082	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:61834082G>A	ENST00000370339.3	-	4	1551	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	404	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTAATGGAGCGGTGGATGTCG	0.552																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1210-1212)Cgc>Tgc		YTH domain family, member 1							97.0	85.0	89.0					20																	61834082		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61834082G>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1210C>T	20.37:g.61834082G>A	ENSP00000359364:p.Arg404Cys					YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C|YTHDF1_ENST00000370334.4_Intron	p.R404C	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1551	-			404			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1210C>T	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105768	0.77096	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.31769	1.48;1.48	4.72	4.72	0.59763	YTH domain (2);	0.047653	0.85682	N	0.000000	T	0.64438	0.2598	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74179	-0.3749	10	0.87932	D	0	-12.6731	18.0486	0.89341	0.0:0.0:1.0:0.0	.	404	Q9BYJ9	YTHD1_HUMAN	C	404;354	ENSP00000359364:R404C;ENSP00000359358:R354C	ENSP00000359358:R354C	R	-	1	0	YTHDF1	61304527	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	9.669000	0.98622	2.339000	0.79563	0.591000	0.81541	CGC		0.552	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		36	515	0	0	0	1	0	36	515				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		10	315	0	0	0	1	0	10	315				
MACF1	23499	broad.mit.edu	37	1	39833893	39833893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:39833893C>T	ENST00000372915.3	+	49	12947	c.12860C>T	c.(12859-12861)tCt>tTt	p.S4287F	MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000564288.1_Missense_Mutation_p.S4282F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4287					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACTGAGCTCTTGTGGCTTT	0.448																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12844-12846)tCt>tTt		microtubule-actin crosslinking factor 1							121.0	115.0	117.0					1																	39833893		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833893C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12860C>T	1.37:g.39833893C>T	ENSP00000362006:p.Ser4287Phe					MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000372915.3_Missense_Mutation_p.S4287F|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F	p.S4282F			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		50	13622	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4287					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12845C>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.340087	0.81911	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.65178	-0.11;1.23;-0.11;-0.14;0.03;1.0	5.85	3.83	0.44106	.	0.499782	0.18532	N	0.138463	T	0.72993	0.3530	L	0.53249	1.67	0.80722	D	1	D;B;P;B	0.76494	0.999;0.089;0.942;0.033	D;B;P;B	0.72982	0.979;0.052;0.708;0.03	T	0.73418	-0.3989	10	0.52906	T	0.07	.	12.4341	0.55590	0.1331:0.7388:0.1281:0.0	.	4287;2220;2220;2185	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	F	2220;4287;2220;2220;2220;2722	ENSP00000439537:S2220F;ENSP00000362006:S4287F;ENSP00000354573:S2220F;ENSP00000313438:S2220F;ENSP00000444364:S2220F;ENSP00000289893:S2722F	ENSP00000289893:S2722F	S	+	2	0	MACF1	39606480	0.979000	0.34478	0.995000	0.50966	0.977000	0.68977	1.987000	0.40687	1.418000	0.47098	0.467000	0.42956	TCT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		25	342	0	0	0	1	0	25	342				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR758_ENST00000390227.1_RNA|MIR380_ENST00000362112.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR299_ENST00000385016.2_RNA|MIR1197_ENST00000408818.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		8	608	0	0	0	1	0	8	608				
NSD1	64324	broad.mit.edu	37	5	176562809	176562809	+	Silent	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176562809A>G	ENST00000439151.2	+	2	750	c.705A>G	c.(703-705)acA>acG	p.T235T	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Silent_p.T235T|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	235					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGACTGAAACACAGAAAAATA	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(703-705)acA>acG		nuclear receptor binding SET domain protein 1							87.0	85.0	86.0					5																	176562809		2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562809A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.705A>G	5.37:g.176562809A>G		HNSCC(47;0.14)				NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Silent_p.T235T	p.T235T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	750	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	235					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.705A>G	CCDS4412.1																																																																																				0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		25	283	0	0	0	1	0	25	283				
KIAA0430	9665	broad.mit.edu	37	16	15729930	15729930	+	Silent	SNP	C	C	T	rs369662480		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:15729930C>T	ENST00000396368.3	-	3	620	c.414G>A	c.(412-414)tcG>tcA	p.S138S	KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Silent_p.S138S|KIAA0430_ENST00000540441.2_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	138					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGTGCTTTGCGAGTCTAACA	0.547																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(412-414)tcG>tcA		KIAA0430		C	,,	1,4165		0,1,2082	170.0	170.0	170.0		414,414,414	-6.8	0.8	16		170	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA0430	NM_001184998.1,NM_001184999.1,NM_014647.3	,,	0,1,6293	TT,TC,CC		0.0,0.024,0.0079	,,	138/1743,138/1740,138/1743	15729930	1,12587	2083	4211	6294	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729930C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.414G>A	16.37:g.15729930C>T						KIAA0430_ENST00000551742.1_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000540441.2_Silent_p.S138S	p.S138S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	620	-			137					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.414G>A	CCDS10562.2																																																																																				0.547	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	745	0	0	0	1	0	7	745				
GCN1L1	10985	broad.mit.edu	37	12	120602186	120602186	+	Missense_Mutation	SNP	G	G	A	rs375873694		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:120602186G>A	ENST00000300648.6	-	18	1814	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	601					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)					GAGTCCGTGCGCCAGCTTAAA	0.612																																						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.(1801-1803)gCg>gTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		G	VAL/ALA	0,3930		0,0,1965	87.0	91.0	90.0		1802	5.8	1.0	12		90	1,8319		0,1,4159	no	missense	GCN1L1	NM_006836.1	64	0,1,6124	AA,AG,GG		0.012,0.0,0.0082	benign	601/2672	120602186	1,12249	1965	4160	6125	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602186G>A	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.1802C>T	12.37:g.120602186G>A	ENSP00000300648:p.Ala601Val						p.A601V	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1814	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		601					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1802C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713573	0.68730	0.0	1.2E-4	ENSG00000089154	ENST00000300648	T	0.04654	3.58	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.052807	0.85682	D	0.000000	T	0.05640	0.0148	L	0.49455	1.56	0.80722	D	1	B	0.29766	0.256	B	0.25291	0.059	T	0.39187	-0.9626	10	0.12103	T	0.63	.	13.3273	0.60467	0.0717:0.0:0.9283:0.0	.	601	Q92616	GCN1L_HUMAN	V	601	ENSP00000300648:A601V	ENSP00000300648:A601V	A	-	2	0	GCN1L1	119086569	1.000000	0.71417	0.965000	0.40720	0.937000	0.57800	7.375000	0.79646	2.769000	0.95229	0.655000	0.94253	GCG		0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	639	0	0	0	1	0	6	639				
SPRED1	161742	broad.mit.edu	37	15	38643373	38643373	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:38643373G>C	ENST00000299084.4	+	7	1703	c.843G>C	c.(841-843)caG>caC	p.Q281H		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	281	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCAGTATTCAGTTTTCTAAAC	0.398									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4																			0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(841-843)caG>caC		sprouty-related, EVH1 domain containing 1							82.0	82.0	82.0					15																	38643373		2200	4297	6497	SO:0001583	missense	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38643373G>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.843G>C	15.37:g.38643373G>C	ENSP00000299084:p.Gln281His						p.Q281H	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1703	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	281			KBD.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.843G>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801388	0.02841	.	.	ENSG00000166068	ENST00000299084	D	0.84298	-1.83	5.97	-0.439	0.12264	c-Kit-binding domain (1);	0.734032	0.14484	N	0.316776	T	0.69205	0.3085	N	0.14661	0.345	0.21325	N	0.999728	B	0.02656	0.0	B	0.01281	0.0	T	0.52358	-0.8586	10	0.24483	T	0.36	-18.8552	9.1329	0.36857	0.2898:0.2295:0.4807:0.0	.	281	Q7Z699	SPRE1_HUMAN	H	281	ENSP00000299084:Q281H	ENSP00000299084:Q281H	Q	+	3	2	SPRED1	36430665	0.847000	0.29606	0.971000	0.41717	0.969000	0.65631	0.024000	0.13555	-0.315000	0.08703	-0.153000	0.13522	CAG		0.398	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			32	297	0	0	0	1	0	32	297				
KLK11	11012	broad.mit.edu	37	19	51527499	51527499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:51527499C>T	ENST00000594768.1	-	4	546	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GACTCAGTGGCTGTCCGGGTC	0.582																																						ENST00000594768.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(361-363)Gcc>Acc		kallikrein-related peptidase 11							105.0	98.0	101.0					19																	51527499		2203	4300	6503	SO:0001583	missense	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51527499C>T	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.361G>A	19.37:g.51527499C>T	ENSP00000473047:p.Ala121Thr					KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T	p.A121T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	4	546	-		all_neural(266;0.026)	121			Peptidase S1.		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	c.361G>A	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	c	13.83	2.354005	0.41700	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.92965	-3.14;-3.14;-3.14	4.32	3.25	0.37280	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37906	U	0.001893	D	0.86531	0.5955	L	0.37897	1.145	0.30572	N	0.763413	B;B	0.29341	0.242;0.242	B;B	0.32393	0.145;0.145	D	0.83710	0.0187	10	0.72032	D	0.01	.	7.0907	0.25282	0.1979:0.6103:0.1918:0.0	.	121;114	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	T	114;89;89;121	ENSP00000375680:A114T;ENSP00000324269:A89T;ENSP00000413958:A89T	ENSP00000324269:A89T	A	-	1	0	KLK11	56219311	0.152000	0.22762	0.709000	0.30452	0.782000	0.44232	0.785000	0.26830	0.977000	0.38444	0.462000	0.41574	GCC		0.582	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		24	517	0	0	0	1	0	24	517				
KRTAP5-10	387273	broad.mit.edu	37	11	71276918	71276918	+	Silent	SNP	C	C	T	rs375555617		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:71276918C>T	ENST00000398531.1	+	1	310	c.285C>T	c.(283-285)ggC>ggT	p.G95G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	95	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G95G(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTGTGGCTCCTGTGGGG	0.687																																						ENST00000398531.1																			1	Substitution - coding silent(1)	p.G95G(1)	upper_aerodigestive_tract(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(283-285)ggC>ggT		keratin associated protein 5-10		C		161,4009		0,161,1924	35.0	55.0	48.0		285	-0.0	0.2	11		48	119,8289		0,119,4085	no	coding-synonymous	KRTAP5-10	NM_001012710.1		0,280,6009	TT,TC,CC		1.4153,3.8609,2.2261		95/203	71276918	280,12298	2085	4204	6289	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276918C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.285C>T	11.37:g.71276918C>T						KRTAP5-10_ENST00000376536.4_Intron	p.G95G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	310	+			95			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.285C>T	CCDS41684.1																																																																																				0.687	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			14	1105	0	0	0	1	0	14	1105				
CCDC60	160777	broad.mit.edu	37	12	119909828	119909828	+	Missense_Mutation	SNP	G	G	A	rs144740799	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:119909828G>A	ENST00000327554.2	+	3	665	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	67										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAGATAGGCCGTGGATATTTT	0.468													G|||	4	0.000798722	0.0	0.0	5008	,	,		19701	0.0		0.001	False		,,,				2504	0.0031					ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(199-201)cGt>cAt		coiled-coil domain containing 60		G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	98.0	95.0	96.0		200	2.0	0.5	12	dbSNP_134	96	17,8583	12.6+/-44.7	0,17,4283	yes	missense	CCDC60	NM_178499.3	29	0,21,6482	AA,AG,GG		0.1977,0.0908,0.1615	probably-damaging	67/551	119909828	21,12985	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119909828G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.200G>A	12.37:g.119909828G>A	ENSP00000333374:p.Arg67His					RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	p.R67H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	665	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		67						Missense_Mutation	SNP	ENST00000327554.2	37	c.200G>A	CCDS9190.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.93	1.490322	0.26686	9.08E-4	0.001977	ENSG00000183273	ENST00000327554	T	0.25912	1.77	5.22	2.0	0.26442	.	0.253027	0.26556	N	0.023712	T	0.39279	0.1072	M	0.68317	2.08	0.39642	D	0.970335	D	0.76494	0.999	D	0.64687	0.928	T	0.20107	-1.0285	9	.	.	.	-12.1971	5.4573	0.16598	0.399:0.0:0.601:0.0	.	67	Q8IWA6	CCD60_HUMAN	H	67	ENSP00000333374:R67H	.	R	+	2	0	CCDC60	118394211	0.438000	0.25602	0.512000	0.27736	0.025000	0.11179	0.906000	0.28517	0.593000	0.29745	-1.175000	0.01729	CGT		0.468	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		21	399	0	0	0	1	0	21	399				
DNAH11	8701	broad.mit.edu	37	7	21882220	21882220	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:21882220C>G	ENST00000409508.3	+	66	10781	c.10750C>G	c.(10750-10752)Cac>Gac	p.H3584D	DNAH11_ENST00000328843.6_Missense_Mutation_p.H3591D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3591	AAA 5. {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						CCTTATCCTTCACACAAAATT	0.413									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.(10771-10773)Cac>Gac		dynein, axonemal, heavy chain 11							109.0	103.0	105.0					7																	21882220		1890	4113	6003	SO:0001583	missense	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.chr7:21882220C>G	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.10750C>G	7.37:g.21882220C>G	ENSP00000475939:p.His3584Asp					DNAH11_ENST00000409508.3_Missense_Mutation_p.H3584D	p.H3591D			Q96DT5	DYH11_HUMAN			67	10802	+			3591			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10771C>G		.	.	.	.	.	.	.	.	.	.	C	17.85	3.490687	0.64074	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53634	-0.8411	9	0.52906	T	0.07	.	17.8716	0.88813	0.0:1.0:0.0:0.0	.	3591	Q96DT5	DYH11_HUMAN	D	3591	ENSP00000330671:H3591D	ENSP00000330671:H3591D	H	+	1	0	DNAH11	21848745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.514000	0.84764	0.655000	0.94253	CAC		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		12	179	0	0	0	1	0	12	179				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	695	0	0	0	1	0	6	695				
IFITM3	10410	broad.mit.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000508004.2_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637																																						ENST00000399808.4																			5	Substitution - coding silent(5)	p.P55P(5)	endometrium(4)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(163-165)ccC>ccT		interferon induced transmembrane protein 3							93.0	98.0	96.0					11																	320649		2062	4173	6235	SO:0001819	synonymous_variant	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320649G>A	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.165C>T	11.37:g.320649G>A						IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA	p.P55P	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	401	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	55					Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	c.165C>T	CCDS41585.1																																																																																				0.637	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		9	623	0	0	0	1	0	9	623				
SMARCA4	6597	broad.mit.edu	37	19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:11143994G>A	ENST00000429416.3	+	27	3856	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3574-3576)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							63.0	62.0	62.0					19																	11143994		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143994G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3575G>A	19.37:g.11143994G>A	ENSP00000395654:p.Arg1192His					SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H	p.R1192H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3859	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1192			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3575G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769759	0.90020	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.99863	4.86	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	-34.1151	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1192;1192;1192;1192;1192;412;1192	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1192;1192;1256;1192;1192;1192;1192;1192	ENSP00000395654:R1192H;ENSP00000350720:R1192H;ENSP00000343896:R1192H;ENSP00000445036:R1192H;ENSP00000392837:R1192H;ENSP00000397783:R1192H;ENSP00000414727:R1192H	ENSP00000343896:R1192H	R	+	2	0	SMARCA4	11004994	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	CGC		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	371	0	0	0	1	0	18	371				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		12	318	0	0	0	1	0	12	318				
ARHGAP17	55114	broad.mit.edu	37	16	24942323	24942323	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:24942323A>G	ENST00000289968.6	-	19	2366	c.2297T>C	c.(2296-2298)cTa>cCa	p.L766P	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	766	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGTTTTCCTAGGGGCGGAGT	0.617																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2296-2298)cTa>cCa		Rho GTPase activating protein 17							70.0	85.0	80.0					16																	24942323		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942323A>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2297T>C	16.37:g.24942323A>G	ENSP00000289968:p.Leu766Pro					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P	p.L766P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2366	-			766			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.2297T>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466931	0.26335	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.20738	2.05;2.08	5.39	4.27	0.50696	.	0.234011	0.21868	N	0.067922	T	0.34454	0.0898	L	0.41356	1.27	0.31123	N	0.708582	B;B;D;B;B	0.89917	0.004;0.003;1.0;0.137;0.215	B;B;D;B;B	0.91635	0.011;0.005;0.999;0.066;0.139	T	0.28138	-1.0053	10	0.54805	T	0.06	.	9.6939	0.40145	0.9158:0.0:0.0842:0.0	.	688;766;299;599;327	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	P	766;688;766	ENSP00000289968:L766P;ENSP00000303130:L688P	ENSP00000289968:L766P	L	-	2	0	ARHGAP17	24849824	0.862000	0.29867	0.018000	0.16275	0.069000	0.16628	3.540000	0.53611	0.829000	0.34733	0.454000	0.30748	CTA		0.617	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		71	707	0	0	0	1	0	71	707				
SLC5A3	6526	broad.mit.edu	37	21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	402					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCAAGAGCGCAAGCTCCCG	0.478																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Gca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							89.0	81.0	84.0					21																	35468701		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468701G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1204G>A	21.37:g.35468701G>A	ENSP00000370543:p.Ala402Thr					MRPS6_ENST00000399312.2_Intron	p.A402T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1716	+			402					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1204G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			5	363	0	0	0	1	0	5	363				
LINGO1	84894	broad.mit.edu	37	15	77907604	77907604	+	Silent	SNP	G	G	A	rs373064406		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGATGAGGCCGTGCAGGTGGG	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(643-645)caC>caT		leucine rich repeat and Ig domain containing 1		G		0,4354		0,0,2177	108.0	117.0	114.0		645	3.6	1.0	15		114	1,8549		0,1,4274	no	coding-synonymous	LINGO1	NM_032808.5		0,1,6451	AA,AG,GG		0.0117,0.0,0.0077		215/621	77907604	1,12903	2177	4275	6452	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907604G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.645C>T	15.37:g.77907604G>A						LINGO1_ENST00000561030.1_Silent_p.H209H	p.H215H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	819	-			215					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.645C>T	CCDS45313.1																																																																																				0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		5	522	0	0	0	1	0	5	522				
BMS1P20	96610	broad.mit.edu	37	22	22664603	22664603	+	RNA	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:22664603T>C	ENST00000426066.1	+	0	784					NR_027293.1				BMS1 pseudogene 20																		ATTGTCTTCATGCAAACTTGG	0.388																																						ENST00000426066.1																			0																																																			0							g.chr22:22664603T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664603T>C								NR_027293.1						0	784	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.388	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	114	0	0	0	1	0	5	114				
ARHGAP10	79658	broad.mit.edu	37	4	148944528	148944528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:148944528G>A	ENST00000336498.3	+	19	2070	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAAGAGGCCCGTGGCCGTCTA	0.502																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1831-1833)Gtg>Atg		Rho GTPase activating protein 10							96.0	99.0	98.0					4																	148944528		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148944528G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1831G>A	4.37:g.148944528G>A	ENSP00000336923:p.Val611Met					ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	p.V611M	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	19	2070	+	all_hematologic(180;0.151)	Renal(17;0.0166)	611					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1831G>A	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.755723|2.755723	0.49362|0.49362	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.11930	.|3.04;2.73	5.72|5.72	3.96|3.96	0.45880|0.45880	.|.	.|0.543718	.|0.18919	.|N	.|0.127533	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.40543|0.40543	1.245|1.245	0.36518|0.36518	D|D	0.869994|0.869994	.|D;D;D;D	.|0.89917	.|1.0;0.983;0.993;0.987	.|D;P;P;P	.|0.85130	.|0.997;0.507;0.475;0.475	T|T	0.07385|0.07385	-1.0775|-1.0775	5|10	.|0.46703	.|T	.|0.11	.|.	9.5873|9.5873	0.39524|0.39524	0.0749:0.2861:0.639:0.0|0.0749:0.2861:0.639:0.0	.|.	.|44;192;260;611	.|Q9H7G7;Q86T21;E7EUW5;A1A4S6	.|.;.;.;RHG10_HUMAN	H|M	288|611;260	.|ENSP00000336923:V611M;ENSP00000406624:V260M	.|ENSP00000336923:V611M	R|V	+|+	2|1	0|0	ARHGAP10|ARHGAP10	149163978|149163978	0.951000|0.951000	0.32395|0.32395	0.938000|0.938000	0.37757|0.37757	0.989000|0.989000	0.77384|0.77384	1.511000|1.511000	0.35801|0.35801	0.732000|0.732000	0.32470|0.32470	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.502	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		31	396	0	0	0	1	0	31	396				
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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		9	778	0	0	0	1	0	9	778				
FRG1B	284802	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	108										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(322-324)Gaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628320G>T			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.322G>T	20.37:g.29628320G>T	ENSP00000278882:p.Glu108*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*	p.E108*							6	702	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.322G>T		.	.	.	.	.	.	.	.	.	.	g	21.0	4.076413	0.76415	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	.	.	.	X	108;113;108	.	ENSP00000278882:E108X	E	+	1	0	FRG1B	28241981	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	6.601000	0.74136	1.475000	0.48197	0.423000	0.28283	GAA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	305	1	0	0.000151284	1	0.000157473	8	305				
PRDM7	11105	broad.mit.edu	37	16	90161014	90161014	+	5'Flank	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:90161014G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGGGCCCTTCGGGCAGGTCTT	0.667																																						ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90161014G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161014G>A	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	894	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.667	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			26	619	0	0	0	1	0	26	619				
OR10C1	442194	broad.mit.edu	37	6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76						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)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGTCTGTCACGGTCCCCCTG	0.577																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(226-228)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							161.0	143.0	150.0					6																	29408019		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408019C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.227C>T	6.37:g.29408019C>T	ENSP00000419119:p.Thr76Met					OR11A1_ENST00000377149.1_Intron	p.T76M	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	937	+			76					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.227C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728727	0.15507	.	.	ENSG00000206474	ENST00000444197	T	0.00882	5.58	3.32	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001132	T	0.01940	0.0061	M	0.88570	2.965	0.09310	N	0.999996	D	0.69078	0.997	P	0.61722	0.893	T	0.38090	-0.9677	10	0.52906	T	0.07	.	6.6195	0.22796	0.0:0.8667:0.0:0.1333	.	76	Q96KK4	O10C1_HUMAN	M	76	ENSP00000419119:T76M	ENSP00000419119:T76M	T	+	2	0	OR10C1	29515998	0.000000	0.05858	0.287000	0.24848	0.043000	0.13939	-0.103000	0.10940	1.858000	0.53909	0.196000	0.17591	ACG		0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			38	515	0	0	0	1	0	38	515				
TMPRSS11F	389208	broad.mit.edu	37	4	68995528	68995528	+	Splice_Site	SNP	G	G	A	rs142296401	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:68995528G>A	ENST00000356291.2	-	1	70	c.11C>T	c.(10-12)gCa>gTa	p.A4V		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	4			A -> T (in dbSNP:rs10030708).			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATACTTACGCGTACATCAT	0.448																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.e1+1		transmembrane protease, serine 11F		G	VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	129.0	111.0	117.0		11	3.5	0.9	4	dbSNP_134	117	0,8600		0,0,4300	yes	missense-near-splice	TMPRSS11F	NM_207407.2	64	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	4/439	68995528	7,12999	2203	4300	6503	SO:0001630	splice_region_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68995528G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.11+1C>T	4.37:g.68995528G>A							p.A4_splice	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			1	70	-			4		A -> T (in dbSNP:rs10030708).			A8MXX2	Splice_Site	SNP	ENST00000356291.2	37	c.11_splice	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759073	0.31137	0.001589	0.0	ENSG00000198092	ENST00000356291	D	0.88509	-2.39	5.24	3.48	0.39840	.	1.880980	0.02227	N	0.064593	T	0.78748	0.4332	N	0.08118	0	0.34127	D	0.6648	P	0.48089	0.905	B	0.35770	0.21	T	0.70174	-0.4944	9	.	.	.	.	11.8719	0.52525	0.0:0.3399:0.6601:0.0	.	4	Q6ZWK6	TM11F_HUMAN	V	4	ENSP00000348639:A4V	.	A	-	2	0	TMPRSS11F	68678123	0.951000	0.32395	0.948000	0.38648	0.344000	0.29017	0.715000	0.25822	0.756000	0.33013	0.650000	0.86243	GCA		0.448	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Missense_Mutation	24	298	0	0	0	1	0	24	298				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			0							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			7	615	0	0	0	1	0	7	615				
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:71347185T>C	ENST00000304887.5	+	3	914	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000413702.1_Missense_Mutation_p.S242P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(724-726)Tct>Cct		mucin 7, secreted							422.0	341.0	368.0					4																	71347185		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347185T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.724T>C	4.37:g.71347185T>C	ENSP00000302021:p.Ser242Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P	p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1012	+			242			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.724T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	9.595	1.127046	0.20959	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	1.88	-3.76	0.04359	.	.	.	.	.	T	0.26048	0.0635	N	0.24115	0.695	0.09310	N	1	B	0.24823	0.112	B	0.17722	0.019	T	0.17837	-1.0356	8	.	.	.	0.6471	6.6904	0.23167	0.7198:0.0:0.0:0.2802	.	242	Q8TAX7	MUC7_HUMAN	P	242	ENSP00000407422:S242P;ENSP00000400585:S242P;ENSP00000302021:S242P	.	S	+	1	0	MUC7	71381774	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.151000	0.01289	-0.798000	0.04444	-0.438000	0.05819	TCT		0.592	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		6	979	0	0	0	1	0	6	979				
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs376509101|rs62639301	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|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)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10.0	13.0	12.0					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	119	0	0	0	1	0	4	119				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R	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			9	386	0	0	0	1	0	9	386				
WNT3A	89780	broad.mit.edu	37	1	228210456	228210456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:228210456C>T	ENST00000284523.1	+	2	238	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	54					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAAGCAGCTCCGCTTCTGCAG	0.652																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(160-162)Cgc>Tgc		wingless-type MMTV integration site family, member 3A							53.0	51.0	52.0					1																	228210456		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210456C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.160C>T	1.37:g.228210456C>T	ENSP00000284523:p.Arg54Cys					WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	238	+		Prostate(94;0.0405)	54					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.160C>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803864	0.90623	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77489	-1.1;-1.1	4.47	4.47	0.54385	.	0.068061	0.64402	D	0.000010	D	0.90573	0.7045	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	D	0.93130	0.6532	10	0.87932	D	0	.	16.9039	0.86120	0.0:1.0:0.0:0.0	.	54;54	P56704;Q3SY79	WNT3A_HUMAN;.	C	54	ENSP00000284523:R54C;ENSP00000355715:R54C	ENSP00000284523:R54C	R	+	1	0	WNT3A	226277079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.534000	0.82004	2.311000	0.77944	0.586000	0.80456	CGC		0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		29	278	0	0	0	1	0	29	278				
ANTXR1	84168	broad.mit.edu	37	2	69409729	69409729	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:69409729G>A	ENST00000303714.4	+	16	1612	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	430					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCCTGAGCCGCGAAATCTCA	0.473									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1288-1290)ccG>ccA		anthrax toxin receptor 1							135.0	129.0	131.0					2																	69409729		2203	4300	6503	SO:0001819	synonymous_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409729G>A	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1290G>A	2.37:g.69409729G>A							p.P430P	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1612	+			430					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	c.1290G>A	CCDS1892.1																																																																																				0.473	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		5	455	0	0	0	1	0	5	455				
CCDC28A	25901	broad.mit.edu	37	6	139095001	139095001	+	Missense_Mutation	SNP	C	C	T	rs200225836	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:139095001C>T	ENST00000332797.6	+	1	345	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	64										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CGGGTCTTTGCGGGTTGCGGA	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		13588	0.001		0.0	False		,,,				2504	0.001					ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(190-192)Cgg>Tgg		coiled-coil domain containing 28A							68.0	85.0	79.0					6																	139095001		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139095001C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.190C>T	6.37:g.139095001C>T	ENSP00000332716:p.Arg64Trp						p.R64W	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	345	+			64					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.190C>T	CCDS5192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.28	2.487247	0.44249	.	.	ENSG00000024862	ENST00000332797	T	0.25579	1.79	4.93	3.15	0.36227	.	1.391920	0.05417	N	0.543593	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.08310	-1.0728	10	0.72032	D	0.01	-2.5804	7.0938	0.25299	0.0:0.8032:0.0:0.1968	.	64	Q8IWP9	CC28A_HUMAN	W	64	ENSP00000332716:R64W	ENSP00000332716:R64W	R	+	1	2	CCDC28A	139136694	0.000000	0.05858	0.006000	0.13384	0.596000	0.36781	0.095000	0.15127	1.450000	0.47717	-0.215000	0.12644	CGG		0.617	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		6	920	0	0	0	1	0	6	920				
MKL1	57591	broad.mit.edu	37	22	40807886	40807886	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:40807886C>T	ENST00000355630.3	-	15	2894	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P	MKL1_ENST00000402042.1_Silent_p.P718P|MKL1_ENST00000396617.3_Missense_Mutation_p.A772T|MKL1_ENST00000407029.1_Silent_p.P768P	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	768	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCAGGGATGGCGGCTCCTTGA	0.532			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2314-2316)Gcc>Acc		megakaryoblastic leukemia (translocation) 1							97.0	107.0	103.0					22																	40807886		2157	4183	6340	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40807886C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2304G>A	22.37:g.40807886C>T						MKL1_ENST00000355630.3_Silent_p.P768P|MKL1_ENST00000407029.1_Silent_p.P768P|MKL1_ENST00000402042.1_Silent_p.P718P	p.A772T			Q969V6	MKL1_HUMAN			15	2904	-			770			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2314G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235131	0.39498	.	.	ENSG00000196588	ENST00000396617	T	0.46451	0.87	4.92	-7.52	0.01341	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	8	0.54805	T	0.06	-2.7668	1.9139	0.03293	0.1882:0.3859:0.1944:0.2315	.	772	E7ER32	.	T	772	ENSP00000379861:A772T	ENSP00000379861:A772T	A	-	1	0	MKL1	39137832	0.000000	0.05858	0.090000	0.20809	0.761000	0.43186	-0.214000	0.09292	-0.755000	0.04709	-1.744000	0.00683	GCC		0.532	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	986	0	0	0	1	0	7	986				
PLIN4	729359	broad.mit.edu	37	19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	rs570898926		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		39657	0.0		0.0	False		,,,				2504	0.001					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2071-2073)Atg>Gtg		perilipin 4							243.0	261.0	255.0					19																	4511859		2151	4245	6396	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511859T>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2071A>G	19.37:g.4511859T>C	ENSP00000301286:p.Met691Val						p.M691V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2070	-			691			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2071A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670420	0.29693	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	5.31	5.31	0.75309	.	1.216040	0.06290	N	0.699098	T	0.04182	0.0116	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.41858	-0.9485	10	0.30854	T	0.27	-0.8619	9.4897	0.38951	0.1579:0.0:0.0:0.8421	.	691	Q96Q06	PLIN4_HUMAN	V	691	ENSP00000301286:M691V	ENSP00000301286:M691V	M	-	1	0	PLIN4	4462859	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	0.103000	0.15292	2.008000	0.58898	0.386000	0.25728	ATG		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		10	2052	0	0	0	1	0	10	2052				
SH3PXD2A	9644	broad.mit.edu	37	10	105362124	105362124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:105362124A>G	ENST00000369774.4	-	15	3127	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	951					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAGGTTTGGAGGGGATGGGG	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2851-2853)Tcc>Ccc		SH3 and PX domains 2A							74.0	69.0	71.0					10																	105362124		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362124A>G	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2851T>C	10.37:g.105362124A>G	ENSP00000358789:p.Ser951Pro					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P	p.S951P			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3127	-		Colorectal(252;0.0815)|Breast(234;0.131)	951					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2851T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.20|14.20	2.463860|2.463860	0.43736|0.43736	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.61510	.|0.19;0.12;0.3;0.1	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.174508	.|0.52532	.|D	.|0.000077	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.59436|0.59436	1.845|1.845	0.53005|0.53005	D|D	0.999963|0.999963	.|P;P;P;P	.|0.47253	.|0.828;0.828;0.859;0.892	.|B;B;P;B	.|0.46026	.|0.237;0.42;0.501;0.319	T|T	0.54622|0.54622	-0.8266|-0.8266	5|10	.|0.30078	.|T	.|0.28	-14.3613|-14.3613	9.8768|9.8768	0.41209|0.41209	0.8072:0.0:0.0:0.1928|0.8072:0.0:0.0:0.1928	.|.	.|951;800;796;923	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	P|P	877|951;923;758;866;818;786	.|ENSP00000358789:S951P;ENSP00000348215:S923P;ENSP00000443663:S818P;ENSP00000441514:S786P	.|ENSP00000318135:S758P	L|S	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352114|105352114	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.444000|0.444000	0.32077|0.32077	5.893000|5.893000	0.69798|0.69798	1.892000|1.892000	0.54788|0.54788	0.454000|0.454000	0.30748|0.30748	CTC|TCC		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	481	0	0	0	1	0	5	481				
MGAT3	4248	broad.mit.edu	37	22	39884386	39884386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:39884386G>A	ENST00000341184.6	+	2	1249	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	345					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TTCCACATGCGCAAGTCGCTC	0.622																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1033-1035)cGc>cAc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							76.0	81.0	79.0					22																	39884386		2200	4294	6494	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884386G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1034G>A	22.37:g.39884386G>A	ENSP00000345270:p.Arg345His						p.R345H	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1249	+	Melanoma(58;0.04)		345					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.1034G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827839	0.90955	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	M	0.79926	2.475	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.85194	0.1011	9	0.66056	D	0.02	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	345	Q09327	MGAT3_HUMAN	H	345	.	ENSP00000345270:R345H	R	+	2	0	MGAT3	38214332	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.978000	0.93450	2.535000	0.85469	0.561000	0.74099	CGC		0.622	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		6	814	0	0	0	1	0	6	814				
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22.0	27.0	25.0					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		5	489	0	0	0	1	0	5	489				
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147.0	146.0	146.0					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	725	0	0	0	1	0	6	725				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		4	126	0	0	0	1	0	4	126				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	264	0	0	0	1	0	9	264				
ZNF761	388561	broad.mit.edu	37	19	53958820	53958820	+	RNA	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							146.0	146.0	146.0					19																	53958820		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958820T>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958820T>C										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1512	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		8	614	0	0	0	1	0	8	614				
SOGA3	387104	broad.mit.edu	37	6	127796643	127796643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:127796643G>A	ENST00000525778.1	-	6	3273	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	SOGA3_ENST00000481848.2_Missense_Mutation_p.A843V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000556132.1_Missense_Mutation_p.A843V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR			Q5TF21	SOGA3_HUMAN	SOGA family member 3	843					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A843V(1)									GTAGATGCGCGCCTCGGTGAT	0.652																																						ENST00000556132.1																			1	Substitution - Missense(1)	p.A843V(1)	large_intestine(1)								c.(2527-2529)gCg>gTg		SOGA family member 3							89.0	102.0	97.0					6																	127796643		2186	4281	6467	SO:0001583	missense	387104					integral to membrane		g.chr6:127796643G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2528C>T	6.37:g.127796643G>A	ENSP00000434570:p.Ala843Val					SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A843V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.A843V	p.A843V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3392	-			843						Missense_Mutation	SNP	ENST00000525778.1	37	c.2528C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686804	0.88639	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	L	0.56769	1.78	0.80722	D	1	P	0.44006	0.824	B	0.38296	0.27	T	0.03706	-1.1011	10	0.42905	T	0.14	-14.9161	14.5446	0.68020	0.0701:0.0:0.9299:0.0	.	843	Q5TF21	CF174_HUMAN	V	843	ENSP00000451768:A843V;ENSP00000357251:A843V;ENSP00000434570:A843V;ENSP00000435559:A843V	ENSP00000435559:A843V	A	-	2	0	C6orf174	127838336	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	1.419000	0.47118	0.462000	0.41574	GCG		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		35	773	0	0	0	1	0	35	773				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					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						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		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.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	618	1	0	5.18039e-06	1	5.46686e-06	6	618				
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	rs552036402		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0					ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2710-2712)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						155.0	142.0	146.0					12																	13717461		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717461G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met						p.T904M	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2920	-			904					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2711C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			8	931	0	0	0	1	0	8	931				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000564451.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000567960.1_RNA								0	931	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		14	178	0	0	0	1	0	14	178				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	685	0	0	0	1	0	10	685				
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647																																						ENST00000391736.1																			1	Substitution - Missense(1)	p.P407S(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1219-1221)Ccc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							62.0	67.0	66.0					19																	55179342		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179342C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1219C>T	19.37:g.55179342C>T	ENSP00000375616:p.Pro407Ser					LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S	p.P407S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	14	1534	+			407					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1219C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556618	0.27827	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00505	7.11;7.11;7.11;6.93;7.12	2.07	2.07	0.26955	.	.	.	.	.	T	0.00906	0.0030	L	0.48935	1.535	0.20764	N	0.999854	D;D;B;B	0.76494	0.999;0.999;0.007;0.001	D;D;B;B	0.76575	0.972;0.988;0.01;0.001	T	0.57946	-0.7723	9	0.22706	T	0.39	.	7.5752	0.27931	0.0:1.0:0.0:0.0	.	354;408;406;407	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	407;407;406;354;408	ENSP00000375616:P407S;ENSP00000270452:P407S;ENSP00000408995:P406S;ENSP00000375614:P354S;ENSP00000375613:P408S	ENSP00000270452:P407S	P	+	1	0	LILRB4	59871154	0.007000	0.16637	0.721000	0.30653	0.421000	0.31385	0.250000	0.18235	1.166000	0.42689	0.407000	0.27541	CCC		0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			6	486	0	0	0	1	0	6	486				
LAMB3	3914	broad.mit.edu	37	1	209800758	209800758	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:209800758C>T	ENST00000356082.4	-	12	1589	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	LAMB3_ENST00000391911.1_Silent_p.P485P|LAMB3_ENST00000367030.3_Silent_p.P485P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	485	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGAGTTGTGCGGGTCGCAGG	0.647											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1453-1455)ccG>ccA		laminin, beta 3							56.0	47.0	50.0					1																	209800758		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209800758C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1455G>A	1.37:g.209800758C>T			OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2185	LAMB3_ENST00000367030.3_Silent_p.P485P|LAMB3_ENST00000356082.4_Silent_p.P485P	p.P485P	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	11	1844	-			485			Laminin EGF-like 5.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.1455G>A	CCDS1487.1																																																																																				0.647	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		5	248	0	0	0	1	0	5	248				
DACH2	117154	broad.mit.edu	37	X	85969723	85969723	+	Splice_Site	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:85969723G>T	ENST00000373125.4	+	6	1104	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	DACH2_ENST00000508860.1_Splice_Site_p.K201N|DACH2_ENST00000510272.1_Splice_Site_p.K149N|DACH2_ENST00000373131.1_Splice_Site_p.K355N	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	368					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGTTATAAAGGTAAGAATCG	0.393																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.e5+1		dachshund homolog 2 (Drosophila)							68.0	59.0	62.0					X																	85969723		2203	4300	6503	SO:0001630	splice_region_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969723G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1104+1G>T	X.37:g.85969723G>T						DACH2_ENST00000510272.1_Splice_Site_p.K149_splice|DACH2_ENST00000373125.4_Splice_Site_p.K368_splice|DACH2_ENST00000508860.1_Splice_Site_p.K201_splice	p.K355_splice	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			5	1228	+			368					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Splice_Site	SNP	ENST00000373125.4	37	c.1065_splice	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984771	0.74474	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.85556	-2.0;-2.0	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	D	0.90841	0.7123	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.998;0.993	P;P;D;D	0.71184	0.893;0.883;0.972;0.909	D	0.91059	0.4884	10	0.48119	T	0.1	.	17.3486	0.87316	0.0:0.0:1.0:0.0	.	234;368;355;368	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	N	368;355;368;201;149;201;23	ENSP00000362223:K355N;ENSP00000362217:K368N	ENSP00000345134:K368N	K	+	3	2	DACH2	85856379	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.894000	0.92506	2.021000	0.59480	0.422000	0.28245	AAG		0.393	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	Missense_Mutation	33	357	1	0	1.62565e-12	1	1.73959e-12	33	357				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	257	0	0	0	1	0	8	257				
ATP12A	479	broad.mit.edu	37	13	25262530	25262530	+	Missense_Mutation	SNP	C	C	A	rs146927457	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:25262530C>A	ENST00000381946.3	+	4	469	c.302C>A	c.(301-303)aCg>aAg	p.T101K	ATP12A_ENST00000218548.6_Missense_Mutation_p.T101K			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	101					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCAAGCAGACGCCTGAGATC	0.587																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(301-303)aCg>aAg		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						203.0	212.0	209.0					13																	25262530		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262530C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.302C>A	13.37:g.25262530C>A	ENSP00000371372:p.Thr101Lys					ATP12A_ENST00000381946.3_Missense_Mutation_p.T101K	p.T101K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	635	+		Lung SC(185;0.0225)|Breast(139;0.077)	101					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.302C>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097218	0.76870	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.77489	-1.1;-1.1	5.06	5.06	0.68205	ATPase, P-type cation-transporter, N-terminal (2);	0.151867	0.45606	D	0.000357	T	0.82226	0.4991	M	0.64404	1.975	0.80722	D	1	D;D	0.55172	0.957;0.97	P;P	0.52758	0.708;0.473	D	0.83710	0.0187	10	0.56958	D	0.05	.	15.9701	0.80008	0.0:1.0:0.0:0.0	.	101;101	P54707-2;P54707	.;AT12A_HUMAN	K	101	ENSP00000218548:T101K;ENSP00000371372:T101K	ENSP00000218548:T101K	T	+	2	0	ATP12A	24160530	1.000000	0.71417	0.801000	0.32222	0.716000	0.41182	5.692000	0.68256	2.624000	0.88883	0.655000	0.94253	ACG		0.587	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		122	1579	1	0	3.28156e-27	1	3.5615e-27	122	1579				
RP11-535M15.2	0	broad.mit.edu	37	9	99489369	99489369	+	RNA	SNP	C	C	A	rs550624055		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:99489369C>A	ENST00000602289.1	+	0	358																											TAGCAGCAACCCTTTTGACAA	0.483																																						ENST00000602289.1																			0																																																			0							g.chr9:99489369C>A																													9.37:g.99489369C>A														0	358	+									RNA	SNP	ENST00000602289.1	37																																																																																						0.483	RP11-535M15.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467352.1			5	89	1	0	0.000602214	1	0.000618417	5	89				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000564451.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000567960.1_RNA								0	1815	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		9	474	0	0	0	1	0	9	474				
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	RNA	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53958826G>A	ENST00000454407.1	+	0	1518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							152.0	151.0	151.0					19																	53958826		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958826G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958826G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1518	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.418	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		9	637	0	0	0	1	0	9	637				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	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_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	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		10	553	0	0	0	1	0	10	553				
QDPR	5860	broad.mit.edu	37	4	17488811	17488811	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:17488811G>A	ENST00000281243.5	-	7	857	c.678C>T	c.(676-678)agC>agT	p.S226S	QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000508623.1_Missense_Mutation_p.A162V|QDPR_ENST00000428702.2_Silent_p.S195S	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	226					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTGGATTAGGCTTCCTGAGC	0.453																																						ENST00000508623.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(484-486)gCc>gTc		quinoid dihydropteridine reductase	NADH(DB00157)						161.0	141.0	148.0					4																	17488811		2203	4300	6503	SO:0001819	synonymous_variant	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17488811G>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.678C>T	4.37:g.17488811G>A						QDPR_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000281243.5_Silent_p.S226S	p.A162V			P09417	DHPR_HUMAN			5	517	-			0					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.485C>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196879	0.38806	.	.	ENSG00000151552	ENST00000508623	D	0.92699	-3.09	5.29	3.56	0.40772	.	.	.	.	.	D	0.90648	0.7067	.	.	.	0.23260	N	0.998021	.	.	.	.	.	.	D	0.84350	0.0532	6	0.87932	D	0	-26.8617	5.9529	0.19257	0.3459:0.0:0.6541:0.0	.	.	.	.	V	162	ENSP00000426377:A162V	ENSP00000426377:A162V	A	-	2	0	QDPR	17097909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.824000	0.27379	1.237000	0.43756	0.650000	0.86243	GCC		0.453	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		27	361	0	0	0	1	0	27	361				
CD163	9332	broad.mit.edu	37	12	7635290	7635290	+	Missense_Mutation	SNP	C	C	A	rs139478533	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:7635290C>A	ENST00000359156.4	-	14	3398	c.3196G>T	c.(3196-3198)Gtc>Ttc	p.V1066F	CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.V1054F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.V1066I(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AATAATGCGACGAAAATGGCC	0.423																																						ENST00000359156.4																			1	Substitution - Missense(1)	p.V1066I(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3196-3198)Gtc>Ttc		CD163 molecule							130.0	138.0	135.0					12																	7635290		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635290C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3196G>T	12.37:g.7635290C>A	ENSP00000352071:p.Val1066Phe					CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F|CD163_ENST00000541972.1_Missense_Mutation_p.V1054F	p.V1066F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3398	-			1066					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3196G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064039	0.20067	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01446	4.88;4.91;4.91;4.91	4.32	-0.639	0.11497	.	1.150940	0.06616	N	0.756554	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	P;P;P	0.37573	0.532;0.6;0.532	B;B;B	0.41860	0.185;0.368;0.185	T	0.51371	-0.8714	10	0.72032	D	0.01	.	7.6763	0.28488	0.0:0.3086:0.0:0.6914	.	1099;1066;1066	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	1066;1054;1099;1066	ENSP00000352071:V1066F;ENSP00000444071:V1054F;ENSP00000379863:V1099F;ENSP00000403885:V1066F	ENSP00000352071:V1066F	V	-	1	0	CD163	7526557	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.734000	0.04893	-0.102000	0.12197	-1.193000	0.01689	GTC		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		43	482	1	0	3.43241e-23	1	3.69025e-23	43	482				
DCST1	149095	broad.mit.edu	37	1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(793-795)cGc>cAc		DC-STAMP domain containing 1							175.0	132.0	147.0					1																	155014235		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014235G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.794G>A	1.37:g.155014235G>A	ENSP00000295542:p.Arg265His					DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H	p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	890	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		265					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.794G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935876	0.34189	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.73	-6.0	0.02206	.	2.011450	0.02298	N	0.070951	T	0.11024	0.0269	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13872	-1.0493	10	0.41790	T	0.15	0.7543	13.3586	0.60642	0.386:0.0:0.614:0.0	.	240;290;265	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	H	265;265;240;265	ENSP00000295542:R265H;ENSP00000376271:R265H;ENSP00000387369:R240H;ENSP00000357404:R265H	ENSP00000295542:R265H	R	+	2	0	DCST1	153280859	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	-1.570000	0.02140	-1.129000	0.02918	-1.332000	0.01269	CGC		0.537	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		7	580	0	0	0	1	0	7	580				
R3HDM4	91300	broad.mit.edu	37	19	902036	902036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:902036G>A	ENST00000361574.5	-	2	239	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	56						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										TCTGAGTTCCGCACTGCCTGG	0.667																																						ENST00000361574.5																			0											c.(166-168)Cgg>Tgg		R3H domain containing 4							90.0	85.0	87.0					19																	902036		2203	4300	6503	SO:0001583	missense	91300					nucleus	nucleic acid binding	g.chr19:902036G>A	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.166C>T	19.37:g.902036G>A	ENSP00000355385:p.Arg56Trp					R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W	p.R56W	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN			2	239	-			56						Missense_Mutation	SNP	ENST00000361574.5	37	c.166C>T	CCDS12048.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761642	0.49468	.	.	ENSG00000198858	ENST00000361574	.	.	.	4.66	-1.34	0.09143	.	0.000000	0.64402	U	0.000006	T	0.65091	0.2658	L	0.61218	1.895	0.51012	D	0.999903	P	0.51537	0.946	P	0.56514	0.8	T	0.70861	-0.4757	9	0.72032	D	0.01	-21.3311	14.4711	0.67517	0.0:0.0:0.5065:0.4935	.	56	Q96D70	CS022_HUMAN	W	56	.	ENSP00000355385:R56W	R	-	1	2	C19orf22	853036	1.000000	0.71417	0.932000	0.37286	0.153000	0.21895	4.107000	0.57811	0.044000	0.15775	-0.521000	0.04368	CGG		0.667	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		6	631	0	0	0	1	0	6	631				
NCOA5	57727	broad.mit.edu	37	20	44699006	44699006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:44699006G>A	ENST00000290231.6	-	3	372	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	70	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R70W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGTGATCCCGCAAATCTCTA	0.562																																						ENST00000290231.6																			1	Substitution - Missense(1)	p.R70W(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(208-210)Cgg>Tgg		nuclear receptor coactivator 5							136.0	132.0	133.0					20																	44699006		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699006G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.208C>T	20.37:g.44699006G>A	ENSP00000290231:p.Arg70Trp						p.R70W	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			3	372	-		Myeloproliferative disorder(115;0.0122)	70			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.208C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221434	0.58560	.	.	ENSG00000124160	ENST00000290231	T	0.55413	0.52	4.93	3.92	0.45320	.	0.191464	0.47852	D	0.000203	T	0.70395	0.3219	M	0.78049	2.395	0.44098	D	0.996864	D	0.89917	1.0	D	0.80764	0.994	T	0.73209	-0.4055	10	0.59425	D	0.04	-0.475	12.5287	0.56102	0.0:0.0:0.7888:0.2112	.	70	Q9HCD5	NCOA5_HUMAN	W	70	ENSP00000290231:R70W	ENSP00000290231:R70W	R	-	1	2	NCOA5	44132413	0.996000	0.38824	0.996000	0.52242	0.978000	0.69477	2.080000	0.41586	2.568000	0.86640	0.650000	0.86243	CGG		0.562	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		8	768	0	0	0	1	0	8	768				
TAS2R50	259296	broad.mit.edu	37	12	11138881	11138881	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:11138881T>C	ENST00000506868.1	-	1	630	c.579A>G	c.(577-579)atA>atG	p.I193M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	193					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCAGAAAAGATATCAGGGACA	0.408																																						ENST00000506868.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(577-579)atA>atG		taste receptor, type 2, member 50							131.0	120.0	124.0					12																	11138881		2203	4300	6503	SO:0001583	missense	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11138881T>C	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.579A>G	12.37:g.11138881T>C	ENSP00000424040:p.Ile193Met					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I193M	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	630	-			193					P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	c.579A>G	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770932	0.31320	.	.	ENSG00000212126	ENST00000506868	T	0.41065	1.01	2.19	-2.61	0.06171	.	2.272960	0.03713	U	0.250636	T	0.47432	0.1445	M	0.80028	2.48	0.09310	N	1	P	0.38535	0.635	B	0.42361	0.385	T	0.48980	-0.8986	10	0.72032	D	0.01	.	3.8053	0.08774	0.1852:0.0:0.3371:0.4777	.	193	P59544	T2R50_HUMAN	M	193	ENSP00000424040:I193M	ENSP00000424040:I193M	I	-	3	3	TAS2R50	11030148	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-0.609000	0.05635	-0.349000	0.08274	0.260000	0.18958	ATA		0.408	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		30	456	0	0	0	1	0	30	456				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	169	0	0	0	1	0	5	169				
PSD	5662	broad.mit.edu	37	10	104164422	104164422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:104164422G>A	ENST00000020673.5	-	15	3144	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	PSD_ENST00000406432.1_Missense_Mutation_p.A873V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	873					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAAGGGGGGCGCAGAGAACAT	0.622																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2617-2619)gCg>gTg		pleckstrin and Sec7 domain containing							120.0	127.0	124.0					10																	104164422		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164422G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2618C>T	10.37:g.104164422G>A	ENSP00000020673:p.Ala873Val					PSD_ENST00000406432.1_Missense_Mutation_p.A873V	p.A873V	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	15	3144	-			873					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2618C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293816	0.95546	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.23147	1.92;1.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.97;0.97;0.991	T	0.57219	-0.7849	10	0.87932	D	0	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	873;776;494	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	V	873;776;873	ENSP00000020673:A873V;ENSP00000384830:A873V	ENSP00000020673:A873V	A	-	2	0	PSD	104154412	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	9.630000	0.98420	2.627000	0.88993	0.555000	0.69702	GCG		0.622	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			7	1154	0	0	0	1	0	7	1154				
SEC16A	9919	broad.mit.edu	37	9	139360502	139360502	+	Silent	SNP	G	G	A	rs368855876		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:139360502G>A	ENST00000371706.3	-	6	3714	c.3681C>T	c.(3679-3681)taC>taT	p.Y1227Y	SEC16A_ENST00000431893.2_Silent_p.Y1227Y|SEC16A_ENST00000290037.6_Silent_p.Y1227Y|SEC16A_ENST00000313050.7_Silent_p.Y1405Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1227	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTAGGTGCCGTAGGCAAAAT	0.577																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4213-4215)taC>taT		SEC16 homolog A (S. cerevisiae)		G		0,4064		0,0,2032	53.0	65.0	61.0		4215	-0.3	0.1	9		61	2,8408		0,2,4203	no	coding-synonymous	SEC16A	NM_014866.1		0,2,6235	AA,AG,GG		0.0238,0.0,0.016		1405/2358	139360502	2,12472	2032	4205	6237	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139360502G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3681C>T	9.37:g.139360502G>A						SEC16A_ENST00000431893.2_Silent_p.Y1227Y|SEC16A_ENST00000371706.3_Silent_p.Y1227Y|SEC16A_ENST00000290037.6_Silent_p.Y1227Y	p.Y1405Y	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	6	4288	-		Myeloproliferative disorder(178;0.0511)	1227					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.4215C>T		.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839346	0.02692	0.0	2.38E-4	ENSG00000148396	ENST00000433860	.	.	.	5.76	-0.351	0.12602	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51028	-0.8757	4	.	.	.	-24.8088	9.9193	0.41455	0.5084:0.0:0.4916:0.0	.	.	.	.	W	102	.	.	R	-	1	2	SEC16A	138480323	0.021000	0.18746	0.099000	0.21106	0.012000	0.07955	-0.799000	0.04560	0.080000	0.16959	-0.136000	0.14681	CGG		0.577	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		5	557	0	0	0	1	0	5	557				
KCTD18	130535	broad.mit.edu	37	2	201354855	201354855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:201354855G>A	ENST00000359878.3	-	7	1759	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	417					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTCAGTCCGCACTCCCAAG	0.592																																						ENST00000359878.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1249-1251)Cgg>Tgg		potassium channel tetramerization domain containing 18							49.0	53.0	52.0					2																	201354855		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201354855G>A	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1249C>T	2.37:g.201354855G>A	ENSP00000352941:p.Arg417Trp					KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	p.R417W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1759	-			417					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.1249C>T	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121811	0.20877	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.35789	1.29;1.29	5.04	2.02	0.26589	.	1.373990	0.04721	N	0.419262	T	0.17492	0.0420	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17868	-1.0355	10	0.41790	T	0.15	2.0253	4.1114	0.10060	0.2142:0.1959:0.5899:0.0	.	417	Q6PI47	KCD18_HUMAN	W	417	ENSP00000352941:R417W;ENSP00000386751:R417W	ENSP00000352941:R417W	R	-	1	2	KCTD18	201063100	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.283000	0.08433	0.715000	0.32103	0.650000	0.86243	CGG		0.592	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		4	215	0	0	0	1	0	4	215				
IGSF3	3321	broad.mit.edu	37	1	117158748	117158748	+	Silent	SNP	A	A	G	rs199696016		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:117158748A>G	ENST00000369486.3	-	3	1140	c.375T>C	c.(373-375)acT>acC	p.T125T	IGSF3_ENST00000369483.1_Silent_p.T125T|IGSF3_ENST00000318837.6_Silent_p.T125T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	125	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T125T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATTGCTTATCAGTGCTGGGTG	0.498																																						ENST00000369486.3																			2	Substitution - coding silent(2)	p.T125T(2)	endometrium(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(373-375)acT>acC		immunoglobulin superfamily, member 3							62.0	56.0	58.0					1																	117158748		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117158748A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.375T>C	1.37:g.117158748A>G						IGSF3_ENST00000318837.6_Silent_p.T125T|IGSF3_ENST00000369483.1_Silent_p.T125T	p.T125T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	1140	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	125			Ig-like C2-type 1.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.375T>C	CCDS30813.1																																																																																				0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		6	303	0	0	0	1	0	6	303				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			12	519	0	0	0	1	0	12	519				
TTC9	23508	broad.mit.edu	37	14	71134284	71134284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:71134284G>T	ENST00000256367.2	+	2	753	c.410G>T	c.(409-411)tGc>tTc	p.C137F		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	137										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCCATAGCCTGCCTGCTCCAG	0.512																																						ENST00000256367.2																			0				skin(1)	1						c.(409-411)tGc>tTc		tetratricopeptide repeat domain 9							47.0	47.0	47.0					14																	71134284		1967	4178	6145	SO:0001583	missense	23508						binding	g.chr14:71134284G>T	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.410G>T	14.37:g.71134284G>T	ENSP00000256367:p.Cys137Phe						p.C137F	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	2	753	+			137					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.410G>T	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400773	0.62177	.	.	ENSG00000133985	ENST00000256367	T	0.17691	2.26	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.068925	0.64402	D	0.000014	T	0.51686	0.1689	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62353	-0.6872	10	0.87932	D	0	-15.8465	18.5279	0.90980	0.0:0.0:1.0:0.0	.	137	Q92623	TTC9A_HUMAN	F	137	ENSP00000256367:C137F	ENSP00000256367:C137F	C	+	2	0	TTC9	70204037	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.243000	0.95416	2.596000	0.87737	0.655000	0.94253	TGC		0.512	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		11	193	1	0	0.000978159	1	0.000999993	11	193				
FAM181A	90050	broad.mit.edu	37	14	94394668	94394668	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:94394668T>G	ENST00000267594.5	+	3	530	c.223T>G	c.(223-225)Ttc>Gtc	p.F75V	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	75										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTGCTGAACTTCGTGAACCT	0.607																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(223-225)Ttc>Gtc		family with sequence similarity 181, member A							83.0	74.0	77.0					14																	94394668		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94394668T>G	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.223T>G	14.37:g.94394668T>G	ENSP00000267594:p.Phe75Val					FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V	p.F75V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	530	+			75					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.223T>G	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550636	0.86127	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000019	T	0.81559	0.4848	M	0.64404	1.975	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.83842	0.0258	10	0.87932	D	0	-15.2697	14.0621	0.64806	0.0:0.0:0.0:1.0	.	75	Q8N9Y4	F181A_HUMAN	V	13;75;13;13;64	ENSP00000451802:F13V;ENSP00000267594:F75V;ENSP00000451678:F13V;ENSP00000452393:F13V	ENSP00000267594:F75V	F	+	1	0	FAM181A	93464421	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.018000	0.88722	1.733000	0.51620	0.260000	0.18958	TTC		0.607	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		16	329	0	0	0	1	0	16	329				
PKN1	5585	broad.mit.edu	37	19	14581660	14581660	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:14581660C>T	ENST00000242783.6	+	21	2787	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F	PKN1_ENST00000342216.4_Silent_p.F880F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCCTTCTTCAGGGTGAGAT	0.607																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2620-2622)ttC>ttT		protein kinase N1							84.0	100.0	95.0					19																	14581660		2024	4174	6198	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581660C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2622C>T	19.37:g.14581660C>T						PKN1_ENST00000342216.4_Silent_p.F880F	p.F874F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			21	2787	+			874			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.2622C>T	CCDS42513.1																																																																																				0.607	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		26	344	0	0	0	1	0	26	344				
SYTL2	54843	broad.mit.edu	37	11	85468696	85468696	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:85468696G>A	ENST00000528231.1	-	1	350	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L|SYTL2_ENST00000316356.4_Silent_p.L25L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	25	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCCCTCTTCAGAGCAGCATCC	0.478																																						ENST00000316356.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(73-75)Ctg>Ttg		synaptotagmin-like 2							240.0	243.0	242.0					11																	85468696		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85468696G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.73C>T	11.37:g.85468696G>A						SYTL2_ENST00000528231.1_Silent_p.L25L|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L	p.L25L			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	2	637	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	25			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.73C>T	CCDS53688.1																																																																																				0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		114	1322	0	0	0	1	0	114	1322				
MAS1L	116511	broad.mit.edu	37	6	29454889	29454889	+	Missense_Mutation	SNP	G	G	A	rs145448286	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29454889G>A	ENST00000377127.3	-	1	849	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	264					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						CTGCACCACCGCATAGACCCT	0.522																																					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.(790-792)gCg>gTg		MAS1 oncogene-like		G	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	37.0	39.0	38.0		791	-3.7	0.0	6	dbSNP_134	38	0,8600		0,0,4300	yes	missense	MAS1L	NM_052967.1	64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	264/379	29454889	5,13001	2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454889G>A	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.791C>T	6.37:g.29454889G>A	ENSP00000366331:p.Ala264Val						p.A264V	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	849	-			264					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.791C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	2.332	-0.353156	0.05173	0.001135	0.0	ENSG00000204687	ENST00000377127	T	0.36340	1.26	2.23	-3.69	0.04450	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01592	0.0051	N	0.00510	-1.415	0.09310	N	1	B	0.25390	0.125	B	0.25291	0.059	T	0.32561	-0.9902	9	0.02654	T	1	.	3.4815	0.07603	0.5201:0.2028:0.2771:0.0	.	264	P35410	MAS1L_HUMAN	V	264	ENSP00000366331:A264V	ENSP00000366331:A264V	A	-	2	0	MAS1L	29562868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.366000	0.01078	-0.792000	0.04480	-0.451000	0.05528	GCG		0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		4	216	0	0	0	1	0	4	216				
DUSP6	1848	broad.mit.edu	37	12	89745479	89745479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:89745479G>T	ENST00000279488.7	-	1	1569	c.338C>A	c.(337-339)tCg>tAg	p.S113*	DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	113	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCCGAGCACCGACTCGCCGCC	0.682																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(337-339)tCg>tAg		dual specificity phosphatase 6							10.0	10.0	10.0					12																	89745479		2160	4241	6401	SO:0001587	stop_gained	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745479G>T	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.338C>A	12.37:g.89745479G>T	ENSP00000279488:p.Ser113*					DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*	p.S113*	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			1	1569	-			113			Rhodanese.		O75109|Q53Y75|Q9BSH6	Nonsense_Mutation	SNP	ENST00000279488.7	37	c.338C>A	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	46	12.912705	0.99705	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6644	0.88200	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000279488:S113X	S	-	2	0	DUSP6	88269610	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.616000	0.98359	2.646000	0.89796	0.655000	0.94253	TCG		0.682	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		4	76	1	0	0.00909568	1	0.00921642	4	76				
TGOLN2	10618	broad.mit.edu	37	2	85554367	85554367	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:85554367T>C	ENST00000409232.3	-	2	549	c.488A>G	c.(487-489)gAc>gGc	p.D163G	TGOLN2_ENST00000444342.2_Missense_Mutation_p.D163G|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_Missense_Mutation_p.D163G|TGOLN2_ENST00000377386.3_Missense_Mutation_p.D163G|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D163G			O43493	TGON2_HUMAN	trans-golgi network protein 2	163	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GCTAGGGCTGTCTTTTTGGGT	0.592																																						ENST00000377386.3																			0											c.(487-489)gAc>gGc		trans-golgi network protein 2							308.0	312.0	311.0					2																	85554367		1960	4149	6109	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554367T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.488A>G	2.37:g.85554367T>C	ENSP00000386443:p.Asp163Gly					TGOLN2_ENST00000409015.1_Missense_Mutation_p.D163G|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D163G|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.D163G|TGOLN2_ENST00000444342.2_Missense_Mutation_p.D163G	p.D163G			O43493	TGON2_HUMAN			2	950	-			163			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.488A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	9.293	1.050995	0.19827	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.13538	2.77;2.58;2.76;2.75;2.75	3.74	-7.49	0.01355	.	.	.	.	.	T	0.08935	0.0221	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.16603	0.018;0.018;0.018;0.018	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.21314	-1.0249	9	0.33940	T	0.23	-0.3642	2.5568	0.04762	0.1733:0.164:0.4626:0.2001	.	163;163;163;163	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	G	163	ENSP00000366603:D163G;ENSP00000381312:D163G;ENSP00000386443:D163G;ENSP00000387035:D163G;ENSP00000391190:D163G	ENSP00000366603:D163G	D	-	2	0	TGOLN2	85407878	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.887000	0.01617	-2.865000	0.00325	0.326000	0.21444	GAC		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		13	2396	0	0	0	1	0	13	2396				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	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_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G	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		8	742	0	0	0	1	0	8	742				
LILRB2	10288	broad.mit.edu	37	19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	rs141001610	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:54782813C>T	ENST00000391749.4	-	6	1080	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(808-810)cGg>cAg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							55.0	58.0	57.0					19																	54782813		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782813C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.809G>A	19.37:g.54782813C>T	ENSP00000375629:p.Arg270Gln					LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q	p.R270Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	936	-	Ovarian(34;0.19)		270			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.809G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	5.569	0.289861	0.10567	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85	1.81	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.309270	0.00911	N	0.002460	T	0.00384	0.0012	N	0.02658	-0.545	0.09310	N	1	B;B;B	0.18310	0.023;0.013;0.027	B;B;B	0.19391	0.011;0.011;0.025	T	0.41945	-0.9480	10	0.02654	T	1	.	1.7023	0.02875	0.2971:0.3746:0.0:0.3284	.	270;287;270	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	270;270;270;270;154	ENSP00000375628:R270Q;ENSP00000319960:R270Q;ENSP00000375629:R270Q;ENSP00000375626:R270Q;ENSP00000410117:R154Q	ENSP00000319960:R270Q	R	-	2	0	LILRB2	59474625	0.000000	0.05858	0.001000	0.08648	0.400000	0.30750	-2.978000	0.00664	-0.281000	0.09141	0.449000	0.29647	CGG		0.627	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			7	424	0	0	0	1	0	7	424				
HEXIM1	10614	broad.mit.edu	37	17	43227456	43227456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:43227456G>A	ENST00000332499.2	+	1	2773	c.899G>A	c.(898-900)cGc>cAc	p.R300H	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	300	Mediates interaction with CCNT1.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCTCTCGCGCATGGAGGAC	0.642																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(898-900)cGc>cAc		hexamethylene bis-acetamide inducible 1							57.0	67.0	64.0					17																	43227456		2203	4300	6503	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227456G>A	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.899G>A	17.37:g.43227456G>A	ENSP00000328773:p.Arg300His						p.R300H	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2773	+			300			Mediates interaction with CCNT1.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.899G>A	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923812	0.92319	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.62723	1.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	T	0.79266	-0.1874	9	0.72032	D	0.01	-12.0662	15.8819	0.79211	0.0:0.0:1.0:0.0	.	300	O94992	HEXI1_HUMAN	H	300	.	ENSP00000328773:R300H	R	+	2	0	HEXIM1	40583239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.488000	0.97947	2.338000	0.79540	0.561000	0.74099	CGC		0.642	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		6	570	0	0	0	1	0	6	570				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	766	0	0	0	1	0	7	766				
FLG2	388698	broad.mit.edu	37	1	152325465	152325465	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:152325465G>A	ENST00000388718.5	-	3	4869	c.4797C>T	c.(4795-4797)taC>taT	p.Y1599Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1599					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCTTGGCCGTAAGTGTGTT	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4795-4797)taC>taT		filaggrin family member 2							345.0	299.0	315.0					1																	152325465		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325465G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4797C>T	1.37:g.152325465G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Y1599Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4869	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1599					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4797C>T	CCDS30861.1																																																																																				0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	1258	0	0	0	1	0	7	1258				
TRIOBP	11078	broad.mit.edu	37	22	38120006	38120006	+	Silent	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:38120006T>C	ENST00000406386.3	+	7	1698	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	481					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.C481C(3)		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)					GAACATCCTGTGCCCAGCGGG	0.592																																						ENST00000406386.3																			3	Substitution - coding silent(3)	p.C481C(3)	kidney(2)|large_intestine(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.(1441-1443)tgT>tgC		TRIO and F-actin binding protein							52.0	51.0	51.0					22																	38120006		1899	4072	5971	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.chr22:38120006T>C	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.1443T>C	22.37:g.38120006T>C						RP1-37E16.12_ENST00000455236.1_RNA	p.C481C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1698	+	Melanoma(58;0.0574)		481					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1443T>C	CCDS43015.1																																																																																				0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	445	0	0	0	1	0	6	445				
KRT80	144501	broad.mit.edu	37	12	52566851	52566851	+	Missense_Mutation	SNP	G	G	A	rs183742007	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:52566851G>A	ENST00000394815.2	-	6	1025	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	KRT80_ENST00000313234.5_Missense_Mutation_p.R310W	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	310	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATCTGGGACCGCAGCTTCTGG	0.637													g|||	2	0.000399361	0.0	0.0	5008	,	,		17689	0.002		0.0	False		,,,				2504	0.0				GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(928-930)Cgg>Tgg		keratin 80		T	TRP/ARG,TRP/ARG	0,4406		0,0,2203	51.0	50.0	50.0		928,928	1.2	0.3	12		50	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KRT80	NM_001081492.1,NM_182507.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	310/423,310/453	52566851	1,13005	2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52566851G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.928C>T	12.37:g.52566851G>A	ENSP00000378292:p.Arg310Trp					KRT80_ENST00000394815.2_Missense_Mutation_p.R310W	p.R310W	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1025	-			310			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.928C>T	CCDS8821.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	14.10	2.434757	0.43224	0.0	1.16E-4	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89270	-2.49;-2.49	4.39	1.24	0.21308	Filament (1);	0.000000	0.34725	N	0.003726	D	0.93726	0.7995	M	0.80422	2.495	0.19300	N	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.991;0.998	D	0.88202	0.2884	10	0.87932	D	0	.	14.4952	0.67683	0.0:0.0:0.5428:0.4572	.	310;310;345	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	W	310	ENSP00000369361:R310W;ENSP00000378292:R310W	ENSP00000369361:R310W	R	-	1	2	KRT80	50853118	0.000000	0.05858	0.287000	0.24848	0.492000	0.33523	0.185000	0.16958	0.577000	0.29470	-0.217000	0.12591	CGG		0.637	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		6	325	0	0	0	1	0	6	325				
SAMSN1	64092	broad.mit.edu	37	21	15882757	15882757	+	Silent	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:15882757A>G	ENST00000400566.1	-	5	516	c.435T>C	c.(433-435)ggT>ggC	p.G145G	SAMSN1_ENST00000285670.2_Silent_p.G213G|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	145					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGTTACTTGTACCATCTGAAC	0.473																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(637-639)ggT>ggC		SAM domain, SH3 domain and nuclear localization signals 1							103.0	98.0	100.0					21																	15882757		2075	4224	6299	SO:0001819	synonymous_variant	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882757A>G	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.435T>C	21.37:g.15882757A>G						SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.G145G	p.G213G	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	813	-			145			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	ENST00000400566.1	37	c.639T>C	CCDS42906.1																																																																																				0.473	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			29	315	0	0	0	1	0	29	315				
CEP170B	283638	broad.mit.edu	37	14	105353866	105353866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:105353866G>A	ENST00000414716.3	+	12	3518	c.3290G>A	c.(3289-3291)cGt>cAt	p.R1097H	CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000453495.1_Missense_Mutation_p.R1098H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1097						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GAGCAGAGCCGTAGCTCAGCC	0.726																																						ENST00000453495.1																			0											c.(3292-3294)cGt>cAt		centrosomal protein 170B							10.0	14.0	13.0					14																	105353866		1925	4091	6016	SO:0001583	missense	283638							g.chr14:105353866G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3290G>A	14.37:g.105353866G>A	ENSP00000404151:p.Arg1097His					CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000414716.3_Missense_Mutation_p.R1097H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H	p.R1098H							12	3521	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3293G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895486	0.17613	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.34	4.34	0.51931	.	0.481200	0.20494	N	0.091239	T	0.36082	0.0954	M	0.63428	1.95	0.35035	D	0.759172	B;B;B	0.28667	0.143;0.027;0.219	B;B;B	0.21360	0.034;0.007;0.034	T	0.52223	-0.8604	10	0.66056	D	0.02	-15.6478	6.6379	0.22893	0.1748:0.0:0.8252:0.0	.	1097;1097;1027	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	H	1027;1097;1098;1027	ENSP00000451249:R1027H;ENSP00000404151:R1097H;ENSP00000407238:R1098H;ENSP00000415006:R1027H	ENSP00000404151:R1097H	R	+	2	0	KIAA0284	104424911	1.000000	0.71417	0.524000	0.27887	0.032000	0.12392	3.850000	0.55918	1.961000	0.56991	0.423000	0.28283	CGT		0.726	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	150	0	0	0	1	0	4	150				
SLC22A20	440044	broad.mit.edu	37	11	65004295	65004295	+	RNA	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:65004295G>A	ENST00000525437.1	+	0	1545							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGCTGGCCGTCTGCGTCCT	0.657																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															62.0	68.0	66.0					11																	65004295		2082	4210	6292			0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65004295G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65004295G>A										A6NK97	S22AK_HUMAN			0	1545	+								B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.657	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		6	548	0	0	0	1	0	6	548				
AGAP4	119016	broad.mit.edu	37	10	51225503	51225503	+	Silent	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:51225503C>G	ENST00000425119.2	-	7	1604	c.1479G>C	c.(1477-1479)gtG>gtC	p.V493V	AGAP8_ENST00000602930.1_Silent_p.V477V	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		493	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CCAGAGATCGCACACGGGAAA	0.532																																						ENST00000602930.1																			0				breast(1)|endometrium(1)|lung(2)|ovary(2)	6						c.(1429-1431)gtG>gtC		ArfGAP with GTPase domain, ankyrin repeat and PH domain 8							77.0	81.0	79.0					10																	51225503		2189	4258	6447	SO:0001819	synonymous_variant	728404				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51225503C>G																												ENST00000425119.2:c.1479G>C	10.37:g.51225503C>G						AGAP8_ENST00000425119.2_Silent_p.V493V	p.V477V	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN			9	1980	-			493			Arf-GAP.			Silent	SNP	ENST00000425119.2	37	c.1431G>C	CCDS41522.1																																																																																				0.532	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048022.2			5	823	0	0	0	1	0	5	823				
TGOLN2	10618	broad.mit.edu	37	2	85554362	85554362	+	Missense_Mutation	SNP	G	G	T	rs202142629		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:85554362G>T	ENST00000409232.3	-	2	554	c.493C>A	c.(493-495)Cct>Act	p.P165T	TGOLN2_ENST00000444342.2_Missense_Mutation_p.P165T|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_Missense_Mutation_p.P165T|TGOLN2_ENST00000377386.3_Missense_Mutation_p.P165T|TGOLN2_ENST00000398263.2_Missense_Mutation_p.P165T			O43493	TGON2_HUMAN	trans-golgi network protein 2	165	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GACTTGCTAGGGCTGTCTTTT	0.597																																						ENST00000377386.3																			0											c.(493-495)Cct>Act		trans-golgi network protein 2							309.0	312.0	311.0					2																	85554362		1957	4148	6105	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554362G>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.493C>A	2.37:g.85554362G>T	ENSP00000386443:p.Pro165Thr					TGOLN2_ENST00000409015.1_Missense_Mutation_p.P165T|TGOLN2_ENST00000398263.2_Missense_Mutation_p.P165T|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.P165T|TGOLN2_ENST00000444342.2_Missense_Mutation_p.P165T	p.P165T			O43493	TGON2_HUMAN			2	955	-			165			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.493C>A	CCDS56126.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.38	1.622723	0.28889	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.14144	2.69;2.53;2.71;2.68;2.67	3.71	-5.04	0.02964	.	.	.	.	.	T	0.05823	0.0152	N	0.10972	0.075	0.09310	N	1	B;B;B;B	0.20261	0.023;0.011;0.043;0.011	B;B;B;B	0.22753	0.024;0.017;0.041;0.03	T	0.37174	-0.9717	9	0.46703	T	0.11	1.3552	4.1894	0.10414	0.3939:0.0:0.3627:0.2434	.	165;165;165;165	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	T	165	ENSP00000366603:P165T;ENSP00000381312:P165T;ENSP00000386443:P165T;ENSP00000387035:P165T;ENSP00000391190:P165T	ENSP00000366603:P165T	P	-	1	0	TGOLN2	85407873	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.866000	0.04245	-1.389000	0.02090	-0.531000	0.04308	CCT		0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		11	2391	1	0	1.58986e-06	1	1.68555e-06	11	2391				
DCAF4L2	138009	broad.mit.edu	37	8	88885063	88885063	+	Silent	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:88885063T>C	ENST00000319675.3	-	1	1233	c.1137A>G	c.(1135-1137)ccA>ccG	p.P379P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	379										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAGCAGCCCTGGTGCTCCTC	0.562																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1135-1137)ccA>ccG		DDB1 and CUL4 associated factor 4-like 2							49.0	55.0	53.0					8																	88885063		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885063T>C	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1137A>G	8.37:g.88885063T>C							p.P379P	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1233	-			379						Silent	SNP	ENST00000319675.3	37	c.1137A>G	CCDS6245.1																																																																																				0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		50	323	0	0	0	1	0	50	323				
SPOCK1	6695	broad.mit.edu	37	5	136476343	136476343	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:136476343G>A	ENST00000394945.1	-	4	442	c.273C>T	c.(271-273)tgC>tgT	p.C91C	SPOCK1_ENST00000282223.7_Silent_p.C91C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	91					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGAGGGCTGCATTTTACCT	0.567																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(271-273)tgC>tgT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							68.0	55.0	59.0					5																	136476343		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136476343G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.273C>T	5.37:g.136476343G>A						SPOCK1_ENST00000282223.7_Silent_p.C91C	p.C91C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	442	-			91					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.273C>T	CCDS4191.1																																																																																				0.567	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		5	154	0	0	0	1	0	5	154				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		14	171	0	0	0	1	0	14	171				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	694	0	0	0	1	0	7	694				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		4	135	0	0	0	1	0	4	135				
KIAA1211	57482	broad.mit.edu	37	4	57180336	57180336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:57180336G>A	ENST00000504228.1	+	6	773	c.668G>A	c.(667-669)cGc>cAc	p.R223H	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H			Q6ZU35	K1211_HUMAN	KIAA1211	223	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGAAGACGCCAAGAAGAC	0.612																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(667-669)cGc>cAc		KIAA1211							35.0	45.0	42.0					4																	57180336		2035	4190	6225	SO:0001583	missense	57482							g.chr4:57180336G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.668G>A	4.37:g.57180336G>A	ENSP00000423366:p.Arg223His					KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H	p.R223H			Q6ZU35	K1211_HUMAN			6	773	+	Glioma(25;0.08)|all_neural(26;0.101)		223			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.668G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	9.671	1.146801	0.21288	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12255	2.7;2.7;2.7	5.07	-0.161	0.13371	.	.	.	.	.	T	0.07683	0.0193	L	0.44542	1.39	0.09310	N	1	B;B;B	0.29612	0.251;0.022;0.022	B;B;B	0.20767	0.031;0.007;0.007	T	0.36553	-0.9743	9	0.17369	T	0.5	-5.3546	0.3015	0.00274	0.2693:0.1396:0.2867:0.3044	.	216;216;223	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	223;223;216;133	ENSP00000264229:R223H;ENSP00000423366:R223H;ENSP00000444006:R216H	ENSP00000264229:R223H	R	+	2	0	KIAA1211	56875093	0.000000	0.05858	0.160000	0.22671	0.856000	0.48823	0.263000	0.18478	0.225000	0.20959	0.561000	0.74099	CGC		0.612	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		6	97	0	0	0	1	0	6	97				
GPR84	53831	broad.mit.edu	37	12	54756512	54756512	+	Missense_Mutation	SNP	C	C	T	rs546291952	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:54756512C>T	ENST00000551809.1	-	1	1759	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	GPR84_ENST00000267015.3_Missense_Mutation_p.R375H|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	375						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCGGAATTGGCGGTTCATGGC	0.542													C|||	35	0.00698882	0.0	0.0	5008	,	,		16255	0.0		0.0	False		,,,				2504	0.0358					ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1123-1125)cGc>cAc		G protein-coupled receptor 84							153.0	174.0	167.0					12																	54756512		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756512C>T	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1124G>A	12.37:g.54756512C>T	ENSP00000450310:p.Arg375His					GPR84_ENST00000267015.3_Missense_Mutation_p.R375H|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.R375H			Q9NQS5	GPR84_HUMAN			1	1759	-			375					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.1124G>A	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317270	0.81469	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.39592	1.07;1.07	5.43	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.49779	0.1577	M	0.77406	2.37	0.53688	D	0.999971	D	0.64830	0.994	P	0.47528	0.549	T	0.54715	-0.8252	10	0.42905	T	0.14	-7.4502	12.1512	0.54051	0.0:0.9163:0.0:0.0837	.	375	Q9NQS5	GPR84_HUMAN	H	375	ENSP00000267015:R375H;ENSP00000450310:R375H	ENSP00000267015:R375H	R	-	2	0	GPR84	53042779	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.314000	0.65804	1.437000	0.47472	0.655000	0.94253	CGC		0.542	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	1316	0	0	0	1	0	7	1316				
STAT3	6774	broad.mit.edu	37	17	40498723	40498723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:40498723G>A	ENST00000264657.5	-	3	449	c.137C>T	c.(136-138)gCg>gTg	p.A46V	STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	46					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A46V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTTGCTGGCCGCATATGCCCT	0.433									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			2	Substitution - Missense(2)	p.A46V(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(136-138)gCg>gTg		signal transducer and activator of transcription 3 (acute-phase response factor)							158.0	158.0	158.0					17																	40498723		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40498723G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.137C>T	17.37:g.40498723G>A	ENSP00000264657:p.Ala46Val					STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V	p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	3	449	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	46					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.137C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848324	0.91277	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.51325	0.71;0.71	5.66	5.66	0.87406	STAT transcription factor, protein interaction (4);	0.219698	0.46758	D	0.000267	T	0.57577	0.2063	L	0.42632	1.34	0.80722	D	1	D;D;D	0.60160	0.987;0.981;0.981	P;P;P	0.56865	0.785;0.808;0.808	T	0.47156	-0.9139	10	0.30078	T	0.28	-22.3549	20.1041	0.97884	0.0:0.0:1.0:0.0	.	46;46;46	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	V	46	ENSP00000264657:A46V;ENSP00000384943:A46V	ENSP00000264657:A46V	A	-	2	0	STAT3	37752249	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.774000	0.85478	2.826000	0.97356	0.655000	0.94253	GCG		0.433	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		8	822	0	0	0	1	0	8	822				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		18	189	0	0	0	1	0	18	189				
KRTAP5-1	387264	broad.mit.edu	37	11	1606326	1606326	+	Missense_Mutation	SNP	C	C	T	rs374671309		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:1606326C>T	ENST00000382171.2	-	1	187	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	52	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGCAGCACACGGGCTTGCAG	0.682																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(154-156)Gtg>Atg		keratin associated protein 5-1							81.0	96.0	91.0					11																	1606326		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1606326C>T	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.154G>A	11.37:g.1606326C>T	ENSP00000371606:p.Val52Met					KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.V52M	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	187	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	52			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.154G>A	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	7.346	0.621923	0.14193	.	.	ENSG00000205869	ENST00000382171	T	0.06933	3.24	3.41	3.41	0.39046	.	.	.	.	.	T	0.20251	0.0487	L	0.49571	1.57	0.23430	N	0.997696	D	0.76494	0.999	D	0.68353	0.957	T	0.02646	-1.1129	9	0.56958	D	0.05	.	10.1785	0.42952	0.0:1.0:0.0:0.0	.	52	Q6L8H4	KRA51_HUMAN	M	52	ENSP00000371606:V52M	ENSP00000371606:V52M	V	-	1	0	KRTAP5-1	1562902	0.583000	0.26757	0.949000	0.38748	0.083000	0.17756	1.052000	0.30429	1.728000	0.51552	0.455000	0.32223	GTG		0.682	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		8	1103	0	0	0	1	0	8	1103				
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G	rs183168612	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632													.|||	12	0.00239617	0.0061	0.0029	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.002					ENST00000400372.1																			2	Substitution - coding silent(2)	p.C205C(2)	lung(1)|prostate(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(613-615)tgT>tgC		keratin associated protein 10-5							155.0	160.0	158.0					21																	45999841		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999841A>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.615T>C	21.37:g.45999841A>G						TSPEAR_ENST00000323084.4_Intron	p.C205C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	640	-			205			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.615T>C	CCDS42958.1																																																																																				0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			8	1228	0	0	0	1	0	8	1228				
CLCN1	1180	broad.mit.edu	37	7	143029823	143029823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:143029823C>T	ENST00000343257.2	+	12	1345	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	420					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGTTGATGCCCCGCGAAGC	0.522																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1258-1260)Ccc>Tcc		chloride channel, voltage-sensitive 1							166.0	159.0	161.0					7																	143029823		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143029823C>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1258C>T	7.37:g.143029823C>T	ENSP00000339867:p.Pro420Ser						p.P420S	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			12	1345	+	Melanoma(164;0.205)		420					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1258C>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500391	0.64298	.	.	ENSG00000188037	ENST00000343257	D	0.92595	-3.07	5.36	5.36	0.76844	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.31476	0.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.75484	0.986	D	0.90724	0.4637	10	0.20519	T	0.43	.	19.4395	0.94813	0.0:1.0:0.0:0.0	.	420	P35523	CLCN1_HUMAN	S	420	ENSP00000339867:P420S	ENSP00000339867:P420S	P	+	1	0	CLCN1	142739945	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.769000	0.85360	2.683000	0.91414	0.643000	0.83706	CCC		0.522	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		6	954	0	0	0	1	0	6	954				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	207	0	0	0	1	0	7	207				
TET3	200424	broad.mit.edu	37	2	74317154	74317154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:74317154G>A	ENST00000409262.3	+	5	2614	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	872					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCCGCCTCGCAGGGGACAA	0.592																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2614-2616)Gca>Aca		tet methylcytosine dioxygenase 3							84.0	92.0	89.0					2																	74317154		2056	4202	6258	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74317154G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2614G>A	2.37:g.74317154G>A	ENSP00000386869:p.Ala872Thr						p.A872T	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			5	2614	+			872					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2614G>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705976	0.15172	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.11821	2.74	5.3	1.27	0.21489	TET cysteine-rich domain (1);	0.536026	0.21571	N	0.072420	T	0.04182	0.0116	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43163	-0.9408	10	0.06891	T	0.86	.	5.0566	0.14537	0.4494:0.1493:0.4013:0.0	.	872	O43151	TET3_HUMAN	T	872	ENSP00000386869:A872T	ENSP00000233310:A872T	A	+	1	0	TET3	74170662	0.023000	0.18921	0.016000	0.15963	0.975000	0.68041	0.734000	0.26101	0.331000	0.23511	0.655000	0.94253	GCA		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			51	591	0	0	0	1	0	51	591				
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GACATCCCACTCCGGGGGCTA	0.483																																						ENST00000564451.1																			0																																																			0							g.chr16:90162338T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162338T>C						TUBB8P7_ENST00000567960.1_RNA								0	1691	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	655	0	0	0	1	0	8	655				
DBH	1621	broad.mit.edu	37	9	136508639	136508639	+	Silent	SNP	C	C	T	rs78200745		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:136508639C>T	ENST00000393056.2	+	4	861	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	283					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(847-849)tgC>tgT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)	C		0,4406		0,0,2203	63.0	64.0	64.0		849	-4.6	0.9	9	dbSNP_131	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		283/618	136508639	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508639C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.849C>T	9.37:g.136508639C>T							p.C283C	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	861	+			283					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.849C>T	CCDS6977.2																																																																																				0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		5	479	0	0	0	1	0	5	479				
OR5F1	338674	broad.mit.edu	37	11	55761879	55761879	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:55761879T>G	ENST00000278409.1	-	1	222	c.223A>C	c.(223-225)Act>Cct	p.T75P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGATGGTAGTTGAGTTACAA	0.443																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(223-225)Act>Cct		olfactory receptor, family 5, subfamily F, member 1							64.0	61.0	62.0					11																	55761879		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761879T>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.223A>C	11.37:g.55761879T>G	ENSP00000278409:p.Thr75Pro						p.T75P	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	222	-	Esophageal squamous(21;0.00448)		75					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.223A>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	9.452	1.090942	0.20471	.	.	ENSG00000149133	ENST00000278409	T	0.00402	7.56	3.03	0.33	0.15929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.79926	2.475	0.09310	N	1	B	0.34226	0.443	B	0.32465	0.146	T	0.34900	-0.9810	9	0.87932	D	0	.	7.279	0.26300	0.4403:0.0:0.0:0.5596	.	75	O95221	OR5F1_HUMAN	P	75	ENSP00000278409:T75P	ENSP00000278409:T75P	T	-	1	0	OR5F1	55518455	0.006000	0.16342	0.036000	0.18154	0.077000	0.17291	0.070000	0.14573	-0.198000	0.10333	0.247000	0.18012	ACT		0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		34	294	0	0	0	1	0	34	294				
RP11-156P1.2	0	broad.mit.edu	37	17	45126612	45126612	+	IGR	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:45126612A>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							ATTCATGAAGACGTTACAAGC	0.483																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45126612A>G																													17.37:g.45126612A>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.483	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			8	321	0	0	0	1	0	8	321				
CAPN11	11131	broad.mit.edu	37	6	44144381	44144381	+	Silent	SNP	C	C	T	rs370482641		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:44144381C>T	ENST00000398776.1	+	10	1103	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CAPN11_ENST00000542245.1_Silent_p.D355D	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	355	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGACGGAGGACGGGGAGTTCT	0.627																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1063-1065)gaC>gaT		calpain 11		C		0,4192		0,0,2096	94.0	110.0	104.0		1065	-5.4	0.6	6		104	1,8459		0,1,4229	no	coding-synonymous	CAPN11	NM_007058.3		0,1,6325	TT,TC,CC		0.0118,0.0,0.0079		355/740	44144381	1,12651	2096	4230	6326	SO:0001819	synonymous_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144381C>T	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1065C>T	6.37:g.44144381C>T						CAPN11_ENST00000398776.1_Silent_p.D355D	p.D355D			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1103	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		355			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	ENST00000398776.1	37	c.1065C>T	CCDS47436.1																																																																																				0.627	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			28	319	0	0	0	1	0	28	319				
GLI2	2736	broad.mit.edu	37	2	121736059	121736059	+	Missense_Mutation	SNP	G	G	A	rs150170739		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:121736059G>A	ENST00000452319.1	+	10	1478	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	GLI2_ENST00000314490.11_Missense_Mutation_p.R145H|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R473H					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTTGTGTGCCGCTGGCAGGCC	0.632																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1417-1419)cGc>cAc		GLI family zinc finger 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	131.0	133.0		1418	4.0	1.0	2	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GLI2	NM_005270.4	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	473/1587	121736059	2,13004	2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121736059G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1418G>A	2.37:g.121736059G>A	ENSP00000390436:p.Arg473His					GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R473H|GLI2_ENST00000314490.11_Missense_Mutation_p.R145H	p.R473H			P10070	GLI2_HUMAN			10	1478	+	Renal(3;0.0496)	Prostate(154;0.0623)	473						Missense_Mutation	SNP	ENST00000452319.1	37	c.1418G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234684	0.58886	2.27E-4	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91792	-2.91;-2.91;-2.91	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.115971	0.64402	D	0.000011	D	0.92463	0.7607	N	0.25890	0.77	0.80722	D	1	B;D;D;B;B	0.89917	0.188;1.0;0.983;0.301;0.054	B;D;P;B;B	0.80764	0.035;0.994;0.599;0.052;0.04	D	0.91007	0.4847	10	0.26408	T	0.33	.	16.6998	0.85346	0.0:0.0:1.0:0.0	.	473;456;128;128;145	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	H	473;473;145	ENSP00000390436:R473H;ENSP00000354586:R473H;ENSP00000312694:R145H	ENSP00000312694:R145H	R	+	2	0	GLI2	121452529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.714000	0.84703	2.249000	0.74217	0.491000	0.48974	CGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		8	855	0	0	0	1	0	8	855				
DDX41	51428	broad.mit.edu	37	5	176941738	176941738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176941738C>T	ENST00000507955.1	-	9	1422	c.899G>A	c.(898-900)gGc>gAc	p.G300D	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	300	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACGGACATGCCCCCAATGCA	0.637																																						ENST00000507955.1																			0											c.(898-900)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							86.0	94.0	91.0					5																	176941738		2202	4298	6500	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176941738C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.899G>A	5.37:g.176941738C>T	ENSP00000422753:p.Gly300Asp						p.G300D	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		9	1422	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	300			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.899G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795543	0.90453	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.50548	0.74;0.74	5.74	4.85	0.62838	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056454	0.64402	N	0.000001	T	0.76026	0.3930	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83210	-0.0074	10	0.87932	D	0	-27.0527	15.8993	0.79359	0.1364:0.8636:0.0:0.0	.	174;300	B3KRK2;Q9UJV9	.;DDX41_HUMAN	D	318;300	ENSP00000330349:G318D;ENSP00000422753:G300D	ENSP00000330349:G318D	G	-	2	0	DDX41	176874344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.351000	0.79395	1.378000	0.46305	0.655000	0.94253	GGC		0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		7	899	0	0	0	1	0	7	899				
STXBP5L	9515	broad.mit.edu	37	3	121097633	121097633	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:121097633C>T	ENST00000273666.6	+	22	2590	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000492541.1_Silent_p.A773A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	773					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTCTAGTGCCGATGTTTCAA	0.473																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2317-2319)gcC>gcT		syntaxin binding protein 5-like							60.0	56.0	57.0					3																	121097633		1870	4105	5975	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097633C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2319C>T	3.37:g.121097633C>T						STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000492541.1_Silent_p.A773A|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000497029.1_Intron	p.A773A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	22	2590	+			773					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.2319C>T	CCDS43137.1																																																																																				0.473	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	176	0	0	0	1	0	8	176				
CHERP	10523	broad.mit.edu	37	19	16652806	16652806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:16652806C>T	ENST00000198939.6	-	2	110	c.74G>A	c.(73-75)cGc>cAc	p.R25H	CTD-3222D19.7_ENST00000595909.1_lincRNA|RN7SL146P_ENST00000472338.2_RNA|CHERP_ENST00000546361.2_Missense_Mutation_p.R25H|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGGCCCATTGCGAGCCACGAA	0.547																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(73-75)cGc>cAc		calcium homeostasis endoplasmic reticulum protein							75.0	88.0	84.0					19																	16652806		1923	4112	6035	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16652806C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.74G>A	19.37:g.16652806C>T	ENSP00000198939:p.Arg25His					CHERP_ENST00000198939.6_Missense_Mutation_p.R25H|CTD-3222D19.2_ENST00000409035.1_Intron	p.R25H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			2	225	-			25						Missense_Mutation	SNP	ENST00000198939.6	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.720028	0.96839	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.52526	0.66;0.66	4.46	4.46	0.54185	SWAP/Surp (3);	.	.	.	.	T	0.76955	0.4060	H	0.95004	3.61	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.84965	0.0879	9	0.87932	D	0	-22.3913	16.1266	0.81400	0.0:1.0:0.0:0.0	.	25	Q8IWX8	CHERP_HUMAN	H	25	ENSP00000439856:R25H;ENSP00000198939:R25H	ENSP00000198939:R25H	R	-	2	0	CHERP	16513806	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.165000	0.77544	2.026000	0.59711	0.511000	0.50034	CGC		0.547	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		5	330	0	0	0	1	0	5	330				
NPTXR	23467	broad.mit.edu	37	22	39222607	39222607	+	Silent	SNP	G	G	A	rs557229755		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:39222607G>A	ENST00000333039.2	-	3	1119	c.996C>T	c.(994-996)acC>acT	p.T332T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	332	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCCCTGGCCGGTGCCGCTGG	0.637																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(994-996)acC>acT		neuronal pentraxin receptor							72.0	68.0	69.0					22																	39222607		2203	4300	6503	SO:0001819	synonymous_variant	23467					integral to membrane	metal ion binding	g.chr22:39222607G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.996C>T	22.37:g.39222607G>A							p.T332T	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			3	1119	-	Melanoma(58;0.04)		332			Pentaxin.			Silent	SNP	ENST00000333039.2	37	c.996C>T	CCDS33647.1																																																																																				0.637	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		5	486	0	0	0	1	0	5	486				
GLTSCR2	29997	broad.mit.edu	37	19	48248871	48248871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:48248871G>A	ENST00000246802.5	+	1	93	c.55G>A	c.(55-57)Gat>Aat	p.D19N	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	19						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGCGATGCCGATTCTGGTTT	0.642																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(55-57)Gat>Aat		glioma tumor suppressor candidate region gene 2							81.0	92.0	88.0					19																	48248871		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48248871G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.55G>A	19.37:g.48248871G>A	ENSP00000246802:p.Asp19Asn					GLTSCR2_ENST00000598681.1_3'UTR	p.D19N	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	93	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	19					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.55G>A	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728740	0.48833	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33865	1.39	4.55	2.37	0.29283	.	0.288040	0.34088	N	0.004263	T	0.20129	0.0484	L	0.34521	1.04	0.09310	N	1	D;D;D	0.52996	0.957;0.957;0.957	B;B;B	0.34301	0.179;0.179;0.179	T	0.16394	-1.0404	10	0.62326	D	0.03	-7.8529	7.5527	0.27806	0.2055:0.0:0.7945:0.0	.	19;19;17	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	N	19	ENSP00000246802:D19N	ENSP00000246802:D19N	D	+	1	0	GLTSCR2	52940683	0.391000	0.25221	0.016000	0.15963	0.050000	0.14768	0.829000	0.27449	0.454000	0.26884	0.655000	0.94253	GAT		0.642	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		6	833	0	0	0	1	0	6	833				
KCNH8	131096	broad.mit.edu	37	3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:19436644C>T	ENST00000328405.2	+	7	1284	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	340					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R340C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCGTCTTTTGCGTCTGCTGCA	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			1	Substitution - Missense(1)	p.R340C(1)	lung(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1018-1020)Cgt>Tgt		potassium voltage-gated channel, subfamily H (eag-related), member 8							196.0	162.0	174.0					3																	19436644		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19436644C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1018C>T	3.37:g.19436644C>T	ENSP00000328813:p.Arg340Cys					KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	p.R340C	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			7	1284	+			340					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1018C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672024	0.88348	.	.	ENSG00000183960	ENST00000328405	D	0.99523	-6.08	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.32416	U	0.006131	D	0.99722	0.9892	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97601	1.0123	9	.	.	.	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	340;340	B7Z398;Q96L42	.;KCNH8_HUMAN	C	340	ENSP00000328813:R340C	.	R	+	1	0	KCNH8	19411648	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	4.787000	0.62432	2.742000	0.94016	0.650000	0.86243	CGT		0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		5	532	0	0	0	1	0	5	532				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	139	0	0	0	1	0	5	139				
TRO	7216	broad.mit.edu	37	X	54957327	54957327	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:54957327G>A	ENST00000173898.7	+	12	4282	c.4170G>A	c.(4168-4170)ccG>ccA	p.P1390P	TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1390	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCGGTGGACCGAGCACAGGAG	0.602																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(4168-4170)ccG>ccA		trophinin							61.0	63.0	62.0					X																	54957327		2044	4183	6227	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957327G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4170G>A	X.37:g.54957327G>A						TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron	p.P1390P	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	4282	+			1390			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.4170G>A	CCDS43959.1																																																																																				0.602	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		28	545	0	0	0	1	0	28	545				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			6	616	0	0	0	1	0	6	616				
SF3B6	51639	broad.mit.edu	37	2	24297040	24297040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:24297040G>A	ENST00000233468.4	-	2	268	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAATATCCGATTTACTTCA	0.294																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(55-57)Cgg>Tgg									91.0	89.0	90.0					2																	24297040		2203	4298	6501	SO:0001583	missense	0				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24297040G>A																												ENST00000233468.4:c.55C>T	2.37:g.24297040G>A	ENSP00000233468:p.Arg19Trp						p.R19W	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			2	268	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		19			RRM.			Missense_Mutation	SNP	ENST00000233468.4	37	c.55C>T	CCDS1707.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901228	0.72754	.	.	ENSG00000115128	ENST00000233468	T	0.36157	1.27	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80708	-0.1262	10	0.87932	D	0	-7.637	12.7778	0.57459	0.0:0.0:0.8358:0.1642	.	19	Q9Y3B4	PM14_HUMAN	W	19	ENSP00000233468:R19W	ENSP00000233468:R19W	R	-	1	2	AC008073.5	24150544	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.084000	0.50143	2.351000	0.79841	0.467000	0.42956	CGG		0.294	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246826.1			16	140	0	0	0	1	0	16	140				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q			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_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	248	0	0	0	1	0	5	248				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		4	175	0	0	0	1	0	4	175				
NUP210	23225	broad.mit.edu	37	3	13377062	13377062	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:13377062G>A	ENST00000254508.5	-	28	3817	c.3735C>T	c.(3733-3735)ggC>ggT	p.G1245G	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1245					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTTTACCCGGCCGAGCACGT	0.607																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3733-3735)ggC>ggT		nucleoporin 210kDa							80.0	76.0	78.0					3																	13377062		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377062G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3735C>T	3.37:g.13377062G>A							p.G1245G	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			28	3817	-	all_neural(104;0.187)		1245					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3735C>T	CCDS33704.1																																																																																				0.607	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		32	294	0	0	0	1	0	32	294				
TMCO6	55374	broad.mit.edu	37	5	140023774	140023774	+	Missense_Mutation	SNP	G	G	A	rs373658685		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140023774G>A	ENST00000394671.3	+	10	1296	c.1195G>A	c.(1195-1197)Gta>Ata	p.V399I	TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	399					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGAGCGTAATGGTATG	0.483																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(1195-1197)Gta>Ata		transmembrane and coiled-coil domains 6		G	ILE/VAL	0,4000		0,0,2000	230.0	219.0	223.0		1195	-2.5	0.6	5		223	1,8365		0,1,4182	no	missense	TMCO6	NM_018502.3	29	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	399/494	140023774	1,12365	2000	4183	6183	SO:0001583	missense	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023774G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1195G>A	5.37:g.140023774G>A	ENSP00000378166:p.Val399Ile					NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	p.V399I	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1296	+			399					Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	c.1195G>A	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355472	0.24598	0.0	1.2E-4	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	-2.54	0.06307	Armadillo-like helical (1);Armadillo-type fold (1);	0.738080	0.12812	N	0.437062	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.24977	-1.0145	10	0.06625	T	0.88	1.034	3.6547	0.08217	0.4213:0.1005:0.3762:0.1019	.	405;399	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	I	399;159;405	ENSP00000378166:V399I;ENSP00000444474:V159I;ENSP00000252100:V405I	ENSP00000252100:V405I	V	+	1	0	TMCO6	140003958	0.001000	0.12720	0.606000	0.28943	0.959000	0.62525	-0.475000	0.06599	-0.410000	0.07542	-0.368000	0.07277	GTA		0.483	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		6	821	0	0	0	1	0	6	821				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(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.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	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.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	376	0	0	0	1	0	6	376				
BCLAF1	9774	broad.mit.edu	37	6	136589449	136589449	+	Nonsense_Mutation	SNP	G	G	A	rs147719127		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:136589449G>A	ENST00000531224.1	-	10	2500	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	750	Poly-Ser.				apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R750G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.R750G(1)	urinary_tract(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2248-2250)Cga>Tga		BCL2-associated transcription factor 1		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	101.0	87.0	92.0		2242,1729,2248	4.1	1.0	6	dbSNP_134	92	5,8595	2.2+/-6.3	0,5,4295	yes	stop-gained,stop-gained,stop-gained	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	,,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,,	748/870,577/748,750/921	136589449	5,13001	2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589449G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2248C>T	6.37:g.136589449G>A	ENSP00000435210:p.Arg750*					BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR	p.R750*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2500	-	Colorectal(23;0.24)		750			Poly-Ser.		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.2248C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.204499	0.99099	0.0	5.81E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	.	.	.	4.97	4.07	0.47477	.	0.000000	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7893	12.524	0.56075	0.0:0.0:0.612:0.388	.	.	.	.	X	750;748;750;577;748;748	.	ENSP00000229446:R748X	R	-	1	2	BCLAF1	136631142	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.833000	0.39161	1.190000	0.43042	0.484000	0.47621	CGA		0.338	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	248	0	0	0	1	0	9	248				
TGOLN2	10618	broad.mit.edu	37	2	85554351	85554351	+	Splice_Site	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:85554351T>C	ENST00000282120.2	-	3	500		c.e3-2		TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000409015.1_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S|TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S			O43493	TGON2_HUMAN	trans-golgi network protein 2							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CCTCCGAACCTGACTTGCTAG	0.602																																						ENST00000282120.2																			0											c.e3-2		trans-golgi network protein 2							311.0	314.0	313.0					2																	85554351		1956	4148	6104	SO:0001630	splice_region_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554351T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000282120.2:c.212-2A>G	2.37:g.85554351T>C						TGOLN2_ENST00000409015.1_Silent_p.S168S|TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S				O43493	TGON2_HUMAN			3	500	-								B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Splice_Site	SNP	ENST00000282120.2	37			.	.	.	.	.	.	.	.	.	.	T	0.755	-0.771466	0.02951	.	.	ENSG00000152291	ENST00000282120	.	.	.	2.95	-5.91	0.02269	.	.	.	.	.	.	.	.	.	.	.	0.21256	N	0.999746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0355	0.30491	0.1707:0.1246:0.0:0.7047	.	.	.	.	.	-1	.	.	.	-	.	.	TGOLN2	85407862	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.395000	0.01053	-2.566000	0.00470	-1.559000	0.00887	.		0.602	TGOLN2-201	KNOWN	basic	protein_coding	protein_coding		NM_006464	Intron	11	2416	0	0	0	1	0	11	2416				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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		6	844	0	0	0	1	0	6	844				
EPHA1	2041	broad.mit.edu	37	7	143096794	143096794	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:143096794C>T	ENST00000275815.3	-	4	871	c.785G>A	c.(784-786)tGc>tAc	p.C262Y		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	262	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCACAGTGGCACCGTCCTAC	0.652																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(784-786)tGc>tAc		EPH receptor A1							41.0	45.0	44.0					7																	143096794		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096794C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.785G>A	7.37:g.143096794C>T	ENSP00000275815:p.Cys262Tyr						p.C262Y	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	871	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	262			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.785G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877639	0.72294	.	.	ENSG00000146904	ENST00000275815	D	0.86627	-2.15	5.22	4.33	0.51752	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000003	D	0.92652	0.7665	M	0.93978	3.48	0.49213	D	0.999766	D	0.58970	0.984	P	0.51550	0.673	D	0.94170	0.7422	10	0.87932	D	0	.	13.6352	0.62219	0.0:0.926:0.0:0.074	.	262	P21709	EPHA1_HUMAN	Y	262	ENSP00000275815:C262Y	ENSP00000275815:C262Y	C	-	2	0	EPHA1	142806916	1.000000	0.71417	0.986000	0.45419	0.907000	0.53573	7.518000	0.81795	1.409000	0.46915	0.655000	0.94253	TGC		0.652	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			35	400	0	0	0	1	0	35	400				
SHD	56961	broad.mit.edu	37	19	4283173	4283173	+	Missense_Mutation	SNP	C	C	T	rs200550741	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4283173C>T	ENST00000543264.2	+	3	1989	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SHD_ENST00000599689.1_Missense_Mutation_p.R176W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGATGAACGGCCAGCAGA	0.567													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0					ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(526-528)Cgg>Tgg		Src homology 2 domain containing transforming protein D							59.0	57.0	58.0					19																	4283173		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4283173C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.526C>T	19.37:g.4283173C>T	ENSP00000446058:p.Arg176Trp					SHD_ENST00000599689.1_Missense_Mutation_p.R176W	p.R176W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1989	+			176					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.526C>T	CCDS12125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.6	4.175397	0.78564	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.35973	1.28	5.47	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.80332	2.49	0.42300	D	0.992177	D	0.89917	1.0	D	0.76071	0.987	T	0.63346	-0.6658	10	0.87932	D	0	-10.4695	11.5411	0.50667	0.4875:0.5125:0.0:0.0	.	176	Q96IW2	SHD_HUMAN	W	176;91	ENSP00000446058:R176W	ENSP00000221852:R91W	R	+	1	2	SHD	4234173	0.997000	0.39634	0.968000	0.41197	0.970000	0.65996	0.914000	0.28624	0.607000	0.29982	0.448000	0.29417	CGG		0.567	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		21	315	0	0	0	1	0	21	315				
CNDP1	84735	broad.mit.edu	37	18	72228136	72228136	+	Missense_Mutation	SNP	G	G	A	rs150779486	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr18:72228136G>A	ENST00000358821.3	+	4	577	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.E74K|CNDP1_ENST00000585136.1_Intron	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	117						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CATCCTGGCCGAACTGGGGAG	0.552													G|||	12	0.00239617	0.0091	0.0	5008	,	,		16481	0.0		0.0	False		,,,				2504	0.0				Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(220-222)Gaa>Aaa		carnosine dipeptidase 1 (metallopeptidase M20 family)		G	LYS/GLU	47,4359	48.9+/-83.8	0,47,2156	135.0	136.0	136.0		349	4.2	0.1	18	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CNDP1	NM_032649.5	56	0,49,6454	AA,AG,GG		0.0233,1.0667,0.3767	possibly-damaging	117/508	72228136	49,12957	2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228136G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.349G>A	18.37:g.72228136G>A	ENSP00000351682:p.Glu117Lys					CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.E117K	p.E74K			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	286	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	117					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.220G>A	CCDS12007.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	5.843	0.339732	0.11069	0.010667	2.33E-4	ENSG00000150656	ENST00000358821	T	0.08896	3.04	5.11	4.22	0.49857	.	0.189436	0.45606	D	0.000347	T	0.03564	0.0102	L	0.45228	1.405	0.19300	N	0.99998	P	0.36633	0.562	B	0.14578	0.011	T	0.37641	-0.9697	10	0.13853	T	0.58	-25.2873	9.5834	0.39501	0.0785:0.1446:0.7769:0.0	.	117	Q96KN2	CNDP1_HUMAN	K	117	ENSP00000351682:E117K	ENSP00000351682:E117K	E	+	1	0	CNDP1	70379116	0.997000	0.39634	0.058000	0.19502	0.362000	0.29581	3.719000	0.54926	1.116000	0.41820	0.655000	0.94253	GAA		0.552	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		8	823	0	0	0	1	0	8	823				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	351	0	0	0	1	0	5	351				
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:225659771C>T	ENST00000258390.7	-	45	5046	c.4979G>A	c.(4978-4980)cGt>cAt	p.R1660H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1654H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478																																						ENST00000409592.3																			2	Substitution - Missense(2)	p.R1658H(1)|p.R198H(1)	large_intestine(2)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4960-4962)cGt>cAt		dedicator of cytokinesis 10							142.0	143.0	143.0					2																	225659771		2005	4185	6190	SO:0001583	missense	55619						GTP binding	g.chr2:225659771C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4979G>A	2.37:g.225659771C>T	ENSP00000258390:p.Arg1660His					DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H	p.R1654H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	45	5074	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1660			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4961G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	DOCK10	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT		0.478	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			47	555	0	0	0	1	0	47	555				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			9	1020	0	0	0	1	0	9	1020				
DSCAM	1826	broad.mit.edu	37	21	41496170	41496170	+	Silent	SNP	G	G	A	rs201137339	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:41496170G>A	ENST00000400454.1	-	20	4125	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1216	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATGATGCCGTTCAGCTTGA	0.572													G|||	4	0.000798722	0.003	0.0	5008	,	,		17417	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3646-3648)aaC>aaT		Down syndrome cell adhesion molecule		G		11,4069		0,11,2029	155.0	164.0	161.0		3648	-3.6	1.0	21		161	0,8370		0,0,4185	no	coding-synonymous	DSCAM	NM_001389.3		0,11,6214	AA,AG,GG		0.0,0.2696,0.0884		1216/2013	41496170	11,12439	2040	4185	6225	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496170G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3648C>T	21.37:g.41496170G>A							p.N1216N	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			20	4125	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1216			Fibronectin type-III 4.		O60468	Silent	SNP	ENST00000400454.1	37	c.3648C>T	CCDS42929.1																																																																																				0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		6	753	0	0	0	1	0	6	753				
FCGR3A	2214	broad.mit.edu	37	1	161512834	161512834	+	Missense_Mutation	SNP	A	A	G	rs1042208		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:161512834A>G	ENST00000436743.1	-	6	887	c.733T>C	c.(733-735)Ttt>Ctt	p.F245L	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000367969.3_Missense_Mutation_p.F281L|FCGR3A_ENST00000443193.1_Missense_Mutation_p.F280L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.F245L	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	245					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F281L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCATTTAAATTTATGGTCC	0.443																																						ENST00000367969.3																			1	Substitution - Missense(1)	p.F281L(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(841-843)Ttt>Ctt		Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						140.0	136.0	138.0					1																	161512834		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161512834A>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.733T>C	1.37:g.161512834A>G	ENSP00000416607:p.Phe245Leu					FCGR3A_ENST00000443193.1_Missense_Mutation_p.F280L|FCGR3A_ENST00000436743.1_Missense_Mutation_p.F245L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.F245L	p.F281L	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	1024	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		245					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.841T>C	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773933	0.31411	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.01369	4.97;4.98;5.06;5.06;5.06	4.54	-2.82	0.05787	.	.	.	.	.	T	0.00300	0.0009	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.43653	-0.9378	9	0.15499	T	0.54	.	1.2657	0.02010	0.1702:0.3738:0.2487:0.2073	rs1042208;rs3171042	245;280	P08637;E9PG94	FCG3A_HUMAN;.	L	281;280;245;245;245	ENSP00000356946:F281L;ENSP00000392047:F280L;ENSP00000416607:F245L;ENSP00000356944:F245L;ENSP00000444971:F245L	ENSP00000356944:F245L	F	-	1	0	FCGR3A	159779458	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-2.668000	0.00845	-0.377000	0.07930	0.482000	0.46254	TTT		0.443	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		7	589	0	0	0	1	0	7	589				
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2																			0																				44.0	41.0	42.0					14																	106237582		1903	4068	5971			0							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T														0	160	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		4	235	0	0	0	1	0	4	235				
GIPR	2696	broad.mit.edu	37	19	46178073	46178073	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:46178073C>G	ENST00000590918.1	+	7	721	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	GIPR_ENST00000304207.8_Missense_Mutation_p.L172V|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.L208V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	208					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGCCCTTGCGCTGTGGAACCA	0.577																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(622-624)Ctg>Gtg		gastric inhibitory polypeptide receptor							67.0	58.0	61.0					19																	46178073		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46178073C>G		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.622C>G	19.37:g.46178073C>G	ENSP00000467494:p.Leu208Val					GIPR_ENST00000304207.8_Missense_Mutation_p.L172V|GIPR_ENST00000263281.3_Missense_Mutation_p.L208V	p.L208V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	7	721	+		Ovarian(192;0.051)|all_neural(266;0.112)	208					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.622C>G	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209882	0.01555	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.57907	0.37;1.21	4.29	2.14	0.27477	GPCR, family 2-like (1);	0.694941	0.12035	N	0.505605	T	0.29749	0.0743	N	0.04959	-0.14	0.09310	N	1	B;P;B	0.40000	0.187;0.698;0.17	B;B;B	0.40825	0.145;0.341;0.2	T	0.09100	-1.0690	10	0.29301	T	0.29	.	6.6579	0.22998	0.0:0.7816:0.0:0.2184	.	172;208;208	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	V	208;172	ENSP00000263281:L208V;ENSP00000305321:L172V	ENSP00000263281:L208V	L	+	1	2	GIPR	50869913	0.163000	0.22920	0.137000	0.22149	0.030000	0.12068	0.778000	0.26732	0.565000	0.29255	-0.258000	0.10820	CTG		0.577	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			4	248	0	0	0	1	0	4	248				
PLEC	5339	broad.mit.edu	37	8	144996470	144996470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:144996470G>A	ENST00000322810.4	-	32	8099	c.7930C>T	c.(7930-7932)Cgc>Tgc	p.R2644C	PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2644	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGAAGCGCTCCCGCTGT	0.627																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7930-7932)Cgc>Tgc		plectin							20.0	22.0	21.0					8																	144996470		2164	4254	6418	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996470G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7930C>T	8.37:g.144996470G>A	ENSP00000323856:p.Arg2644Cys					PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C	p.R2644C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8099	-			2644			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7930C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.349012	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78595	-1.16;-1.16;-1.19;-1.19;-1.17;-1.16;-1.15;-1.16;-1.16	4.38	4.38	0.52667	.	0.100263	0.38720	U	0.001592	T	0.68979	0.3060	L	0.40543	1.245	0.50039	D	0.999843	D;D;D;D;D;D;D;D	0.60160	0.987;0.987;0.987;0.978;0.987;0.987;0.987;0.987	B;B;B;B;B;B;B;B	0.42882	0.401;0.401;0.401;0.226;0.401;0.401;0.401;0.401	T	0.73697	-0.3901	10	0.87932	D	0	.	10.1728	0.42920	0.0:0.0:0.6587:0.3413	.	2534;2493;2485;2644;2475;2507;2511;2507	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2507;2511;2507;2475;2644;2485;2493;2534;2530	ENSP00000344848:R2507C;ENSP00000350277:R2511C;ENSP00000346602:R2507C;ENSP00000381756:R2475C;ENSP00000323856:R2644C;ENSP00000347044:R2485C;ENSP00000348702:R2493C;ENSP00000388180:R2534C;ENSP00000434583:R2530C	ENSP00000323856:R2644C	R	-	1	0	PLEC	145068458	0.964000	0.33143	0.950000	0.38849	0.712000	0.41017	2.523000	0.45580	2.289000	0.77006	0.443000	0.29094	CGC		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		23	190	0	0	0	1	0	23	190				
TTN	7273	broad.mit.edu	37	2	179430536	179430536	+	Missense_Mutation	SNP	C	C	T	rs370589806		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:179430536C>T	ENST00000591111.1	-	276	75624	c.75400G>A	c.(75400-75402)Gtg>Atg	p.V25134M	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN_ENST00000589042.1_Missense_Mutation_p.V26775M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25134	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GCAGCTTTCACGGCATCAACA	0.448																																						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.(80323-80325)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3993		0,1,1996	213.0	203.0	206.0		53128,72619,53503,53704	4.9	1.0	2		206	0,8366		0,0,4183	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,1,6179	TT,TC,CC		0.0,0.025,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging	17710/26927,24207/33424,17835/27052,17902/27119	179430536	1,12359	1997	4183	6180	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430536C>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.75400G>A	2.37:g.179430536C>T	ENSP00000465570:p.Val25134Met					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25134M|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.V26775M	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)		326	80547	-			25134			Ig-like 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80323G>A		.	.	.	.	.	.	.	.	.	.	C	10.61	1.399923	0.25291	2.5E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.81	4.92	0.64577	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64170	0.2574	M	0.85197	2.74	0.35338	D	0.786241	D;D;D;D	0.67145	0.996;0.996;0.996;0.979	P;P;P;B	0.51324	0.666;0.666;0.666;0.397	T	0.77003	-0.2749	9	0.87932	D	0	.	8.7455	0.34583	0.1243:0.7408:0.0:0.1349	.	17710;17835;17902;25134	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	24207;17710;17902;17835;17708	ENSP00000343764:V24207M;ENSP00000434586:V17710M;ENSP00000340554:V17902M;ENSP00000352154:V17835M	ENSP00000340554:V17902M	V	-	1	0	TTN	179138782	0.982000	0.34865	0.987000	0.45799	0.977000	0.68977	2.631000	0.46502	1.436000	0.47453	0.555000	0.69702	GTG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	947	0	0	0	1	0	6	947				
FLT4	2324	broad.mit.edu	37	5	180056983	180056983	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:180056983G>T	ENST00000261937.6	-	5	714	c.636C>A	c.(634-636)gaC>gaA	p.D212E	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D212E|FLT4_ENST00000393347.3_Missense_Mutation_p.D212E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	212	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGAAGTCCTGGTCTCCCCAGG	0.637																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(634-636)gaC>gaA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						92.0	79.0	83.0					5																	180056983		2201	4297	6498	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056983G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.636C>A	5.37:g.180056983G>T	ENSP00000261937:p.Asp212Glu					FLT4_ENST00000393347.3_Missense_Mutation_p.D212E|FLT4_ENST00000502649.1_Missense_Mutation_p.D212E|FLT4_ENST00000424276.2_5'UTR	p.D212E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	714	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	212			Ig-like C2-type 2.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.636C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047952	0.36085	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04654	3.58;3.58;3.58	5.06	4.17	0.49024	Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03783	0.0107	L	0.34521	1.04	0.28658	N	0.906316	B;P;B;B	0.35033	0.349;0.481;0.003;0.003	B;B;B;B	0.33454	0.05;0.164;0.004;0.004	T	0.27262	-1.0079	9	0.30078	T	0.28	.	3.8203	0.08833	0.09:0.1755:0.576:0.1585	.	212;212;212;212	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	E	212;212;212;22	ENSP00000261937:D212E;ENSP00000377016:D212E;ENSP00000426057:D212E	ENSP00000261937:D212E	D	-	3	2	FLT4	179989589	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	2.115000	0.41921	2.517000	0.84864	0.561000	0.74099	GAC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	286	1	0	1	1	1	5	286				
PES1	23481	broad.mit.edu	37	22	30976129	30976129	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:30976129C>G	ENST00000405677.1	-	13	1606	c.663G>C	c.(661-663)ttG>ttC	p.L221F	PES1_ENST00000354694.7_Missense_Mutation_p.L360F|PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000402281.1_Missense_Mutation_p.L221F|PES1_ENST00000402284.3_Missense_Mutation_p.L343F	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCCCAATGCACAAAGATTTGT	0.577																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(661-663)ttG>ttC		pescadillo ribosomal biogenesis factor 1							144.0	135.0	138.0					22																	30976129		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976129C>G	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.663G>C	22.37:g.30976129C>G	ENSP00000385654:p.Leu221Phe					PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000354694.6_Missense_Mutation_p.L360F|PES1_ENST00000402284.3_Missense_Mutation_p.L343F|PES1_ENST00000405677.1_Missense_Mutation_p.L221F	p.L221F			O00541	PESC_HUMAN			13	1654	-			360			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.663G>C		.	.	.	.	.	.	.	.	.	.	C	14.69	2.611636	0.46631	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.28	4.26	0.50523	BRCT (4);	0.482992	0.20082	N	0.099631	T	0.34658	0.0905	L	0.42529	1.33	0.80722	D	1	D;B;D;D	0.57571	0.973;0.197;0.98;0.973	P;B;P;P	0.52159	0.691;0.141;0.663;0.691	T	0.05937	-1.0855	10	0.49607	T	0.09	-4.9277	8.9919	0.36028	0.0:0.657:0.2658:0.0773	.	360;343;355;360	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	F	360;221;221;343;355	ENSP00000346725:L360F;ENSP00000384366:L221F;ENSP00000385654:L221F;ENSP00000384252:L343F;ENSP00000334612:L355F	ENSP00000334612:L355F	L	-	3	2	PES1	29306129	0.943000	0.32029	1.000000	0.80357	0.915000	0.54546	0.079000	0.14782	1.226000	0.43582	-0.150000	0.13652	TTG		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		5	649	0	0	0	1	0	5	649				
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478													.|||	307	0.0613019	0.0461	0.0735	5008	,	,		21594	0.0268		0.0795	False		,,,				2504	0.09					ENST00000564451.1																			1	Substitution - Missense(1)	p.R358W(1)	stomach(1)																																																0							g.chr16:90162340C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162340C>T						TUBB8P7_ENST00000567960.1_RNA								0	1693	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.478	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	651	0	0	0	1	0	8	651				
RYR3	6263	broad.mit.edu	37	15	33795853	33795853	+	Missense_Mutation	SNP	G	G	A	rs572913737		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:33795853G>A	ENST00000389232.4	+	3	263	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	65					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCTCTGCGTCTGCAATTT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20468	0.0		0.0	False		,,,				2504	0.001					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(193-195)Gtc>Atc		ryanodine receptor 3							56.0	57.0	57.0					15																	33795853		1941	4151	6092	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33795853G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.193G>A	15.37:g.33795853G>A	ENSP00000373884:p.Val65Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	p.V65I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	3	263	+		all_lung(180;7.18e-09)	65					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.193G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	8.783	0.928601	0.18131	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98164	-4.76;-4.76	5.36	3.36	0.38483	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.069726	0.56097	D	0.000033	D	0.87811	0.6271	N	0.00436	-1.5	0.32828	D	0.503591	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	D	0.85323	0.1085	10	0.22706	T	0.39	.	5.095	0.14729	0.3515:0.0:0.6485:0.0	.	65;65	Q15413-2;Q15413	.;RYR3_HUMAN	I	65	ENSP00000373884:V65I;ENSP00000399610:V65I	ENSP00000354735:V65I	V	+	1	0	RYR3	31583145	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	2.728000	0.47319	1.479000	0.48272	0.655000	0.94253	GTC		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	96	0	0	0	1	0	5	96				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			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.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		19	697	0	0	0	1	0	19	697				
GPR162	27239	broad.mit.edu	37	12	6933844	6933844	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:6933844G>A	ENST00000311268.3	+	2	1567	c.780G>A	c.(778-780)tcG>tcA	p.S260S	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGATGGCTCGGAGTCTGCCA	0.622																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(778-780)tcG>tcA		G protein-coupled receptor 162							54.0	55.0	54.0					12																	6933844		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933844G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.780G>A	12.37:g.6933844G>A						GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	p.S260S	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1567	+			260					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.780G>A	CCDS8563.1																																																																																				0.622	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		24	346	0	0	0	1	0	24	346				
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	217	0	0	0	1	0	5	217				
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						ENST00000399808.4																			3	Substitution - Missense(3)	p.P70T(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(208-210)Ccc>Acc		interferon induced transmembrane protein 3							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA	p.P70T	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	444	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		15	618	1	0	7.68411e-24	1	8.30029e-24	15	618				
APBB1	322	broad.mit.edu	37	11	6432092	6432092	+	Missense_Mutation	SNP	C	C	A	rs145320037		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:6432092C>A	ENST00000609360.1	-	2	585	c.486G>T	c.(484-486)gaG>gaT	p.E162D	APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D|APBB1_ENST00000389906.2_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_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D	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		7	222	1	0	0.00198382	1	0.00201909	7	222				
CEL	1056	broad.mit.edu	37	9	135940495	135940495	+	Missense_Mutation	SNP	G	G	A	rs562551668		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:135940495G>A	ENST00000372080.4	+	4	434	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CEL_ENST00000351304.7_Missense_Mutation_p.A137T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	137					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGCCATGGGGCCAACTTCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17461	0.0		0.0	False		,,,				2504	0.001					ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(418-420)Gcc>Acc		carboxyl ester lipase							143.0	155.0	151.0					9																	135940495		2050	4179	6229	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940495G>A	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.418G>A	9.37:g.135940495G>A	ENSP00000361151:p.Ala140Thr					CEL_ENST00000351304.7_Missense_Mutation_p.A137T	p.A140T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	4	434	+			137					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.418G>A	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166069	0.57476	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72725	-0.47;-0.68	5.16	4.25	0.50352	Carboxylesterase, type B (1);	0.202192	0.51477	D	0.000085	T	0.67144	0.2862	L	0.46741	1.465	0.58432	D	0.999992	P	0.47350	0.894	P	0.44597	0.454	T	0.67937	-0.5541	10	0.45353	T	0.12	.	13.986	0.64337	0.0:0.0:0.8473:0.1527	.	137	P19835	CEL_HUMAN	T	140;137;140	ENSP00000361151:A140T;ENSP00000342217:A137T	ENSP00000304021:A140T	A	+	1	0	CEL	134930316	1.000000	0.71417	0.676000	0.29932	0.366000	0.29705	4.416000	0.59815	1.130000	0.42092	0.561000	0.74099	GCC		0.612	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			9	1668	0	0	0	1	0	9	1668				
SLCO1B3	28234	broad.mit.edu	37	12	21015401	21015401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:21015401G>A	ENST00000381545.3	+	7	756	c.537G>A	c.(535-537)atG>atA	p.M179I	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	179					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGGGGAATATGCTTCGTGGCA	0.378																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(535-537)atG>atA		solute carrier organic anion transporter family, member 1B3							178.0	174.0	175.0					12																	21015401		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015401G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.537G>A	12.37:g.21015401G>A	ENSP00000370956:p.Met179Ile					SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron	p.M179I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			7	756	+	Esophageal squamous(101;0.149)		179					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.537G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114546	0.06881	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.79141	0.46;0.46;0.46;0.46;-1.24;0.46	3.9	2.92	0.33932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.346611	0.35124	N	0.003433	T	0.52964	0.1767	N	0.11000	0.08	0.80722	D	1	B;B;B	0.28933	0.228;0.007;0.007	B;B;B	0.30316	0.114;0.028;0.028	T	0.44205	-0.9343	10	0.17832	T	0.49	.	5.0501	0.14503	0.0946:0.1553:0.6118:0.1383	.	179;179;179	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	179;179;179;179;3;179	ENSP00000442000:M179I;ENSP00000261196:M179I;ENSP00000370956:M179I;ENSP00000451758:M179I;ENSP00000443225:M3I;ENSP00000441269:M179I	ENSP00000441269:M179I	M	+	3	0	SLCO1B3;RP11-545J16.1	20906668	0.979000	0.34478	1.000000	0.80357	0.081000	0.17604	0.414000	0.21164	1.732000	0.51606	0.460000	0.39030	ATG		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		26	474	0	0	0	1	0	26	474				
OTX1	5013	broad.mit.edu	37	2	63283274	63283274	+	Silent	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:63283274T>C	ENST00000282549.2	+	5	1164	c.888T>C	c.(886-888)caT>caC	p.H296H	OTX1_ENST00000366671.3_Silent_p.H296H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	296	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)					accaccaccatcaccaccacc	0.642																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(886-888)caT>caC		orthodenticle homeobox 1							99.0	75.0	83.0					2																	63283274		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283274T>C		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.888T>C	2.37:g.63283274T>C						OTX1_ENST00000366671.3_Silent_p.H296H	p.H296H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1164	+	Lung NSC(7;0.121)|all_lung(7;0.211)		296			His-rich.		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.888T>C	CCDS1873.1																																																																																				0.642	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			6	452	0	0	0	1	0	6	452				
GLB1L	79411	broad.mit.edu	37	2	220104663	220104663	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:220104663T>G	ENST00000295759.7	-	7	1013	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	234					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACAGTGGTATAGAGTCCC	0.527																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(700-702)Acc>Ccc		galactosidase, beta 1-like							104.0	114.0	110.0					2																	220104663		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220104663T>G		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.700A>C	2.37:g.220104663T>G	ENSP00000295759:p.Thr234Pro					GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000497855.1_Intron	p.T234P			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1013	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	234					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.700A>C	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304575	0.60305	.	.	ENSG00000163521	ENST00000295759;ENST00000392089	D;D	0.97924	-4.61;-4.61	5.37	1.38	0.22167	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.331520	0.36034	N	0.002831	D	0.92169	0.7517	N	0.15975	0.35	0.80722	D	1	B	0.23185	0.081	B	0.28991	0.097	D	0.84745	0.0753	10	0.33940	T	0.23	-4.5903	5.7925	0.18369	0.127:0.2293:0.0:0.6437	.	234	Q6UWU2	GLB1L_HUMAN	P	234	ENSP00000295759:T234P;ENSP00000375939:T234P	ENSP00000295759:T234P	T	-	1	0	GLB1L	219812907	0.814000	0.29104	0.987000	0.45799	0.988000	0.76386	1.378000	0.34328	0.461000	0.27071	0.528000	0.53228	ACC		0.527	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		60	813	0	0	0	1	0	60	813				
TNFRSF21	27242	broad.mit.edu	37	6	47253929	47253929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:47253929G>A	ENST00000296861.2	-	2	892	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	167					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCTTACACCGCACATCCTCA	0.542																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(499-501)Cgg>Tgg		tumor necrosis factor receptor superfamily, member 21							313.0	226.0	255.0					6																	47253929		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253929G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.499C>T	6.37:g.47253929G>A	ENSP00000296861:p.Arg167Trp						p.R167W	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		2	892	-			167					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.499C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668949	0.67814	.	.	ENSG00000146072	ENST00000296861	T	0.61742	0.08	5.54	4.61	0.57282	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.164121	0.49305	D	0.000156	T	0.65154	0.2664	M	0.72894	2.215	0.47214	D	0.999353	D	0.89917	1.0	P	0.62649	0.905	T	0.68108	-0.5496	10	0.72032	D	0.01	.	12.0809	0.53669	0.0:0.0:0.6729:0.327	.	167	O75509	TNR21_HUMAN	W	167	ENSP00000296861:R167W	ENSP00000296861:R167W	R	-	1	2	TNFRSF21	47361888	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.334000	0.43920	2.767000	0.95098	0.591000	0.81541	CGG		0.542	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		8	622	0	0	0	1	0	8	622				
TRGC2	6967	broad.mit.edu	37	7	38288863	38288863	+	RNA	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:38288863G>T	ENST00000436911.2	-	0	310							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTGGAGGAAAGATAATTTCTT	0.343																																						ENST00000436911.2																			0																				154.0	134.0	140.0					7																	38288863		1870	4094	5964			0							g.chr7:38288863G>T	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38288863G>T														0	310	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.343	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		6	181	1	0	0.217242	1	0.218195	6	181				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		8	787	0	0	0	1	0	8	787				
MUC17	140453	broad.mit.edu	37	7	100684253	100684253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:100684253G>A	ENST00000306151.4	+	3	9620	c.9556G>A	c.(9556-9558)Gca>Aca	p.A3186T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3186	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCCTTTCAGCAACTCCTGT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9556-9558)Gca>Aca		mucin 17, cell surface associated							291.0	294.0	293.0					7																	100684253		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684253G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9556G>A	7.37:g.100684253G>A	ENSP00000302716:p.Ala3186Thr						p.A3186T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9620	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3186			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9556G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.320	-0.139008	0.06669	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.34	-1.96	0.07525	.	.	.	.	.	T	0.00845	0.0028	N	0.02539	-0.55	0.09310	N	1	B	0.17667	0.023	B	0.18263	0.021	T	0.44757	-0.9307	9	0.06757	T	0.87	.	4.509	0.11901	0.2777:0.2211:0.5012:0.0	.	3186	Q685J3	MUC17_HUMAN	T	3186	ENSP00000302716:A3186T	ENSP00000302716:A3186T	A	+	1	0	MUC17	100470973	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.602000	0.00110	-1.177000	0.02744	-1.958000	0.00481	GCA		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1598	0	0	0	1	0	9	1598				
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		10	549						10	549	---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		21	312						21	312	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785494	12785494	+	Frame_Shift_Del	DEL	G	G	-	rs7513079	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:12785494delG	ENST00000359318.5	+	4	789	c.584delG	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Del_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAA	0.458																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(373-375)ttfs		arylacetamide deacetylase-like 3							148.0	137.0	140.0					1																	12785494		1854	4094	5948	SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785494delG		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.584delG	1.37:g.12785494delG	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs	p.C125fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	600	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	195					B3KXR9|Q5VUY1	Frame_Shift_Del	DEL	ENST00000359318.5	37	c.374delG	CCDS41253.1																																																																																				0.458	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		8	959						8	959	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27107212	27107213	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:27107212_27107213insTT	ENST00000324856.7	+	20	7194_7195	c.6823_6824insTT	c.(6823-6825)attfs	p.I2275fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.I603fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.I1892fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.I2058fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2275					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.I2275T(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCACAAGTCATTTGTGATGTA	0.5			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Missense(1)	p.I2275T(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6823-6825)ttgfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27107212_27107213insTT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6824_6825dupTT	1.37:g.27107213_27107214dupTT	ENSP00000320485:p.Ile2275fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.L1892fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.L2058fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.L603fs	p.L2275fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	7194_7195	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2275					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.6823_6824insTT	CCDS285.1																																																																																				0.500	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		46	552						46	552	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	1028						8	1028	---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:34666398delA	ENST00000488417.1	+	3	1155	c.1035delA	c.(1033-1035)ccafs	p.P345fs	C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	345										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1033-1035)ccfs		chromosome 1 open reading frame 94							71.0	69.0	70.0					1																	34666398		2203	4300	6503	SO:0001589	frameshift_variant	84970						protein binding	g.chr1:34666398delA	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1035delA	1.37:g.34666398delA	ENSP00000435634:p.Pro345fs					C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	p.P345fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1155	+		Myeloproliferative disorder(586;0.0393)	155					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Frame_Shift_Del	DEL	ENST00000488417.1	37	c.1035delA	CCDS44108.1																																																																																				0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		9	450						9	450	---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1279-1284)ctaaaafs		zinc finger, MYM-type 4																																				SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35846959_35846960insA	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs					ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1361_1362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	427					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	ENST00000314607.6	37	c.1281_1282insA	CCDS389.1																																																																																				0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		8	379						8	379	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		11	359						11	359	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ATTTCAATCCAAACATAGCTG	0.393																																						ENST00000505841.1																			0																																																			0							g.chr1:47325282delA	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325282delA								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		8	157						8	157	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			10	196						10	196	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			12	151						12	151	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			18	33						18	33	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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		17	67						17	67	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188637	152188638	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:152188637_152188638insCG	ENST00000368801.2	-	3	5542_5543	c.5467_5468insCG	c.(5467-5469)ggcfs	p.G1823fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1823					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCCAGAGCCCTGTTGGCCA	0.594																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5467-5469)ctcfs		hornerin																																				SO:0001589	frameshift_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188637_152188638insCG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5467_5468insCG	1.37:g.152188637_152188638insCG	ENSP00000357791:p.Gly1823fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L1823fs	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5542_5543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1823					Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	ENST00000368801.2	37	c.5467_5468insCG	CCDS30859.1																																																																																				0.594	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		10	1129						10	1129	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171511148	171511149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:171511148_171511149insA	ENST00000338920.4	+	16	4774_4775	c.4537_4538insA	c.(4537-4539)gaafs	p.E1513fs	PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.E1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.E1513fs|PRRC2C_ENST00000367742.3_Frame_Shift_Ins_p.E1515fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGAGAGGGATGAAAAAAAAAAT	0.391																																						ENST00000367742.3																			0											c.(4543-4545)aaafs		proline-rich coiled-coil 2C																																				SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171511148_171511149insA	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.4547dupA	1.37:g.171511158_171511158dupA	ENSP00000343629:p.Glu1513fs					PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.K1513fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.K1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.K1513fs	p.K1515fs			Q9Y520	PRC2C_HUMAN			16	4785_4786	+			1513					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Ins	INS	ENST00000338920.4	37	c.4543_4544insA	CCDS1296.2																																																																																				0.391	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		10	278						10	278	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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		9	495						9	495	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576																																					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.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	417						7	417	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		9	490						9	490	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-	rs377079619		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttccgc>ttc	p.R1093del	DYSF_ENST00000429174.2_In_Frame_Del_p.R1093del|DYSF_ENST00000409366.1_In_Frame_Del_p.R1094del|DYSF_ENST00000409762.1_In_Frame_Del_p.R1110del|DYSF_ENST00000413539.2_In_Frame_Del_p.R1124del|DYSF_ENST00000409651.1_In_Frame_Del_p.R1125del|DYSF_ENST00000410020.3_In_Frame_Del_p.R1111del|DYSF_ENST00000394120.2_In_Frame_Del_p.R1094del|DYSF_ENST00000409582.3_In_Frame_Del_p.R1110del|DYSF_ENST00000410041.1_In_Frame_Del_p.R1111del|DYSF_ENST00000409744.1_In_Frame_Del_p.R1080del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1093	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3265-3270)ttc>tt		dysferlin																																				SO:0001651	inframe_deletion	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801420_71801422delCCG	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3267_3269delCCG	2.37:g.71801429_71801431delCCG	ENSP00000258104:p.Arg1093del					DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del	p.FR1089del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			30	3544_3546	+			1089			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	In_Frame_Del	DEL	ENST00000258104.3	37	c.3267_3269delCCG	CCDS1918.1																																																																																				0.655	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	1105						7	1105	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001					ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(646-648)cccfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs					WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs	p.P216fs			Q96G27	WBP1_HUMAN			5	849_850	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.646_647insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		7	824						7	824	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539831	95539832	+	Frame_Shift_Ins	INS	-	-	C	rs199573327		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:95539831_95539832insC	ENST00000295201.4	+	3	828_829	c.691_692insC	c.(691-693)tacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGCTCATCCGTACTCCACCACC	0.663																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(691-693)ctcfs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539831_95539832insC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	Exception_encountered	2.37:g.95539831_95539832insC	ENSP00000295201:p.Tyr231fs					AC097374.2_ENST00000568768.1_RNA	p.L231fs	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			3	828_829	+			231						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.691_692insC	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	525						7	525	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	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		13	567						13	567	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																						ENST00000272542.3																			1	Deletion - Frameshift(1)	p.R332fs*14(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(982-987)ccagfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416607_113416608delAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs					SLC20A1_ENST00000480984.1_3'UTR	p.PE328fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1523_1524	+			328					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.984_985delAG	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		10	395						10	395	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:167055992delT	ENST00000409435.1	-	26	5156	c.5157delA	c.(5155-5157)aaafs	p.K1719fs	SCN9A_ENST00000375387.4_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGATGAACTTTTTTTGGGT	0.423																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5158-5160)aafs		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						234.0	251.0	245.0					2																	167055992		2201	4300	6501	SO:0001589	frameshift_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055992delT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5157delA	2.37:g.167055992delT	ENSP00000386330:p.Lys1719fs					SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs	p.K1720fs			Q15858	SCN9A_HUMAN			27	5500	-			1719					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	c.5160delA	CCDS46441.1																																																																																				0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	1303						7	1303	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		9	798						9	798	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	EFHD1_ENST00000409613.1_In_Frame_Del_p.E126del|EFHD1_ENST00000409708.1_In_Frame_Del_p.E110del|EFHD1_ENST00000410095.1_In_Frame_Del_p.E110del|snoU13_ENST00000459149.1_RNA	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	222					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(652-657)cgg>cg		EF-hand domain family, member D1																																				SO:0001651	inframe_deletion	80303						calcium ion binding|protein binding	g.chr2:233546363_233546365delGGA		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.654_656delGGA	2.37:g.233546372_233546374delGGA	ENSP00000264059:p.Glu222del					EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del	p.RE218del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1131_1133	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	218					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	In_Frame_Del	DEL	ENST00000264059.3	37	c.654_656delGGA	CCDS2497.1																																																																																				0.547	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		9	506						9	506	---	---	---	---
KLHDC8B	200942	broad.mit.edu	37	3	49211714	49211714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:49211714delC	ENST00000332780.2	+	3	628	c.419delC	c.(418-420)gccfs	p.A140fs	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	140						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTGACACGGCCCCCCAGGCC	0.607																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(418-420)gcfs		kelch domain containing 8B							99.0	95.0	96.0					3																	49211714		2203	4300	6503	SO:0001589	frameshift_variant	200942					cytoplasm		g.chr3:49211714delC		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.419delC	3.37:g.49211714delC	ENSP00000327468:p.Ala140fs					KLHDC8B_ENST00000476495.2_3'UTR	p.A140fs	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	628	+			140						Frame_Shift_Del	DEL	ENST00000332780.2	37	c.419delC	CCDS2791.1																																																																																				0.607	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		7	733						7	733	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1294-1296)ggfs		protein kinase C, delta							215.0	220.0	218.0					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1622	+		Ovarian(412;0.0728)	433			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	1601						8	1601	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3955-3957)aaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433231_122433232insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs						p.K1319fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4221_4222	+			1319			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.3955_3956insA	CCDS46894.1																																																																																				0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		12	238						12	238	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168833257	168833257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:168833257delT	ENST00000464456.1	-	7	3039	c.1839delA	c.(1837-1839)aaafs	p.K613fs	MECOM_ENST00000460814.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K613fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K801fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K614fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K678fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K614fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	22					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G614fs*30(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTTGCTTCCTTTTTTTCCCC	0.498																																						ENST00000464456.1																			2	Deletion - Frameshift(2)	p.G614fs*30(2)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1837-1839)aafs		MDS1 and EVI1 complex locus							121.0	110.0	114.0					3																	168833257		2203	4300	6503	SO:0001589	frameshift_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833257delT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1839delA	3.37:g.168833257delT	ENSP00000419770:p.Lys613fs					MECOM_ENST00000494292.1_Frame_Shift_Del_p.K801fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K678fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K614fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K613fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K614fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K613fs	p.K613fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	3039	-			22					Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	c.1839delA	CCDS54669.1																																																																																				0.498	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		7	259						7	259	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aaafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(922-924)aafs		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							68.0	72.0	70.0					4																	38020014		2203	4298	6501	SO:0001589	frameshift_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38020014delA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.922delA	4.37:g.38020014delA	ENSP00000261439:p.Lys309fs					TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			4	1277	+			309			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	ENST00000261439.4	37	c.922delA	CCDS33972.1																																																																																				0.313	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		8	384						8	384	---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85414481	85414483	+	In_Frame_Del	DEL	GCC	GCC	-	rs143458004	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:85414481_85414483delGCC	ENST00000295886.4	-	3	1284_1286	c.1063_1065delGGC	c.(1063-1065)ggcdel	p.G355del	NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	355	Involved in DNA-binding. {ECO:0000250}.|Poly-Gly.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCAGTAGGAGGCCGCCGCCGCCG	0.675																																						ENST00000295886.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15						c.(1063-1065)del		NK6 homeobox 1				24,3,4239		2,0,20,0,3,2108						3.5	1.0			46	32,2,8218		1,0,30,0,2,4093	no	codingComplex	NKX6-1	NM_006168.2		3,0,50,0,5,6201	A1A1,A1A2,A1R,A2A2,A2R,RR		0.412,0.6329,0.4873				56,5,12457				SO:0001651	inframe_deletion	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414481_85414483delGCC	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.1063_1065delGGC	4.37:g.85414490_85414492delGCC	ENSP00000295886:p.Gly355del					NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	p.G355del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	1284_1286	-		Hepatocellular(203;0.114)	355			Involved in DNA-binding (By similarity).|Poly-Gly.			In_Frame_Del	DEL	ENST00000295886.4	37	c.1063_1065delGGC	CCDS3607.1																																																																																				0.675	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		7	276						7	276	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		13	680						13	680	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-	rs368167746		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		15	463						15	463	---	---	---	---
LARP1B	55132	broad.mit.edu	37	4	129127626	129127627	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:129127626_129127627insA	ENST00000326639.6	+	18	2564_2565	c.2353_2354insA	c.(2353-2355)gaafs	p.E785fs	LARP1B_ENST00000264584.5_Frame_Shift_Ins_p.E726fs|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000354456.3_Frame_Shift_Ins_p.E204fs	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	785						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTATGGACTGGAAAAAAAATTC	0.292																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2353-2355)aaafs		La ribonucleoprotein domain family, member 1B																																				SO:0001589	frameshift_variant	55132						RNA binding	g.chr4:129127626_129127627insA		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2361dupA	4.37:g.129127634_129127634dupA	ENSP00000321997:p.Glu785fs					LARP1B_ENST00000354456.3_Frame_Shift_Ins_p.K204fs|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Frame_Shift_Ins_p.K726fs|LARP1B_ENST00000441387.1_Intron	p.K785fs	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			18	2564_2565	+			785					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Frame_Shift_Ins	INS	ENST00000326639.6	37	c.2353_2354insA	CCDS3738.1																																																																																				0.292	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		8	582						8	582	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	342						11	342	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	399						7	399	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-	rs562339021		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	306						8	306	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		7	306						7	306	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31421389	31421389	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:31421389delC	ENST00000511367.2	-	29	3759	c.3515delG	c.(3514-3516)ggafs	p.G1172fs	DROSHA_ENST00000513349.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.G1172fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.G1135fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1172	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGTTAAGTGTCCTTCATGATG	0.378																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3514-3516)gafs		drosha, ribonuclease type III							177.0	186.0	183.0					5																	31421389		1870	4095	5965	SO:0001589	frameshift_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31421389delC	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3515delG	5.37:g.31421389delC	ENSP00000425979:p.Gly1172fs					DROSHA_ENST00000344624.3_Frame_Shift_Del_p.G1172fs|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.G1135fs	p.G1172fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			29	3759	-			1172			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.3515delG	CCDS47195.1																																																																																				0.378	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		53	591						53	591	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453|rs75551718	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	739						7	739	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			10	1117						10	1117	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130815368	130815369	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:130815368_130815369insT	ENST00000509018.1	-	16	2123_2124	c.1918_1919insA	c.(1918-1920)agtfs	p.S640fs	RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.S355fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Ins_p.S690fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.S640fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	640					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGGCGATTACTTTTTTTTTCA	0.366																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1918-1920)taafs		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815368_130815369insT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1919dupA	5.37:g.130815377_130815377dupT	ENSP00000421684:p.Ser640fs					RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.*640fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.*690fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.*355fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.*640fs	p.*640fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2123_2124	-			640					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Ins	INS	ENST00000509018.1	37	c.1918_1919insA	CCDS34225.1																																																																																				0.366	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		8	565						8	565	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140474590	140474590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140474590delA	ENST00000194155.4	+	1	364	c.216delA	c.(214-216)ggafs	p.G72fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCCAAAGGAAAAAAAATGC	0.522																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(214-216)ggfs						2,4262		1,0,2131	69.0	74.0	72.0			2.6	1.0	5		73	1,8253		0,1,4126	no	frameshift	PCDHB2	NM_018936.2		1,1,6257	A1A1,A1R,RR		0.0121,0.0469,0.024			140474590	3,12515	2203	4300	6503	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474590delA	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.216delA	5.37:g.140474590delA	ENSP00000194155:p.Gly72fs						p.G72fs	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	364	+			72			Cadherin 1.		Q4KMU1	Frame_Shift_Del	DEL	ENST00000194155.4	37	c.216delA	CCDS4244.1																																																																																				0.522	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		8	464						8	464	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		9	755						9	755	---	---	---	---
HIST1H1D	3007	broad.mit.edu	37	6	26234632	26234632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:26234632delT	ENST00000244534.5	-	1	584	c.530delA	c.(529-531)aagfs	p.K177fs		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	177					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGTTTTCACCTTTTTCGCACT	0.537																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(529-531)agfs		histone cluster 1, H1d							110.0	114.0	113.0					6																	26234632		2203	4300	6503	SO:0001589	frameshift_variant	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234632delT	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.530delA	6.37:g.26234632delT	ENSP00000244534:p.Lys177fs						p.K177fs	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	584	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	177					B2R751|Q2M2I2	Frame_Shift_Del	DEL	ENST00000244534.5	37	c.530delA	CCDS4597.1																																																																																				0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		7	879						7	879	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		8	248						8	248	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-	rs375626099		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:90556398delT	ENST00000551025.1	+	0	1492									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							86.0	82.0	83.0					6																	90556398		1832	4090	5922			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90556398delT	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90556398delT										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	1492	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	DEL	ENST00000551025.1	37																																																																																						0.418	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		7	35						7	35	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.660	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		8	905						8	905	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)cggfs	p.R304fs	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627																																						ENST00000320285.4																			3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R303fs*7(2)|p.R303fs*60(1)	large_intestine(2)|ovary(1)	endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(907-909)ggfs		1-acylglycerol-3-phosphate O-acyltransferase 4							60.0	70.0	66.0					6																	161560589		2203	4300	6503	SO:0001589	frameshift_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560589delG	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.907delC	6.37:g.161560589delG	ENSP00000314036:p.Arg304fs					AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs	p.R304fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1119	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	304					B4DSF9|Q5TEF0	Frame_Shift_Del	DEL	ENST00000320285.4	37	c.907delC	CCDS5280.1																																																																																				0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		11	976						11	976	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		22	718						22	718	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99705124	99705124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:99705124delG	ENST00000344095.4	-	15	2304	c.1779delC	c.(1777-1779)cccfs	p.P593fs	TAF6_ENST00000453269.2_Frame_Shift_Del_p.P593fs|TAF6_ENST00000452041.1_Frame_Shift_Del_p.P593fs|TAF6_ENST00000437822.2_Frame_Shift_Del_p.P630fs|TAF6_ENST00000418432.2_Frame_Shift_Del_p.P517fs|TAF6_ENST00000472509.1_Frame_Shift_Del_p.P650fs|AP4M1_ENST00000421755.1_Intron	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	593					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCAGTGCTGGGGGGTGCGG	0.657																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1777-1779)ccfs		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							98.0	99.0	99.0					7																	99705124		2203	4300	6503	SO:0001589	frameshift_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99705124delG		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1779delC	7.37:g.99705124delG	ENSP00000344537:p.Pro593fs					TAF6_ENST00000453269.2_Frame_Shift_Del_p.P593fs|TAF6_ENST00000437822.2_Frame_Shift_Del_p.P630fs|TAF6_ENST00000452041.1_Frame_Shift_Del_p.P593fs|TAF6_ENST00000418432.2_Frame_Shift_Del_p.P517fs|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Frame_Shift_Del_p.P650fs	p.P593fs	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			15	2304	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		593					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Frame_Shift_Del	DEL	ENST00000344095.4	37	c.1779delC	CCDS5686.1																																																																																				0.657	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		7	1002						7	1002	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	354						7	354	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_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)			cctctaaattcttttttttttt	0.535																																						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)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	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.100369731_100369731dupT						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	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	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		11	36						11	36	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128482291	128482294	+	Frame_Shift_Del	DEL	GACG	GACG	-	rs370035829		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:128482291_128482294delGACG	ENST00000325888.8	+	14	2389_2392	c.2128_2131delGACG	c.(2128-2133)gacggcfs	p.DG710fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	710					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACAGGACGCCGACGGCTGTCCCAT	0.623											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2128-2133)gcfs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482291_128482294delGACG	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2128_2131delGACG	7.37:g.128482291_128482294delGACG	ENSP00000327145:p.Asp710fs		OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs	p.DG710fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			14	2389_2392	+			710					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	ENST00000325888.8	37	c.2128_2131delGACG	CCDS43644.1																																																																																				0.623	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			10	167						10	167	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			0							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA														0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		7	64						7	64	---	---	---	---
TRBV6-8	28599	broad.mit.edu	37	7	142124496	142124497	+	RNA	INS	-	-	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:142124496_142124497insG	ENST00000390376.2	-	0	49									T cell receptor beta variable 6-8																		AATCCACGCAAGGGCCCTGCCC	0.614																																						ENST00000390376.2																			0																																																			0							g.chr7:142124496_142124497insG	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124499_142124499dupG														0	49	-									RNA	INS	ENST00000390376.2	37																																																																																						0.614	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		10	641						10	641	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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		9	650						9	650	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:113241029delA	ENST00000297405.5	-	70	11164	c.10920delT	c.(10918-10920)tttfs	p.F3640fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3640						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10918-10920)ttfs		CUB and Sushi multiple domains 3							78.0	81.0	80.0					8																	113241029		2203	4297	6500	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113241029delA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10920delT	8.37:g.113241029delA	ENSP00000297405:p.Phe3640fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs	p.F3640fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			70	11164	-			3640					Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.10920delT	CCDS6315.1																																																																																				0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	346						7	346	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aaattcfs	p.F534fs	KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.F534fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.F414fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTAT	0.455																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.F534I(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1597-1602)aatcaafs		potassium voltage-gated channel, KQT-like subfamily, member 3																																				SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232_133150233insT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600dupA	8.37:g.133150241_133150241dupT	ENSP00000373648:p.Phe534fs					KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs	p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2019_2020	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Ins	INS	ENST00000388996.4	37	c.1599_1600insA	CCDS34943.1																																																																																				0.455	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		18	677						18	677	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:124522389_124522391delAAG	ENST00000408936.3	+	6	1023_1025	c.841_843delAAG	c.(841-843)aagdel	p.K285del	DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	285	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(841-843)del		DAB2 interacting protein																																				SO:0001651	inframe_deletion	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522389_124522391delAAG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.841_843delAAG	9.37:g.124522398_124522400delAAG	ENSP00000386183:p.Lys285del					DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del	p.K285del			Q5VWQ8	DAB2P_HUMAN			6	1023_1025	+			285			C2.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	In_Frame_Del	DEL	ENST00000408936.3	37	c.841_843delAAG																																																																																					0.601	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		7	424						7	424	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-	rs377265020		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:137693829delC	ENST00000371817.3	+	38	3396	c.2982delC	c.(2980-2982)ggcfs	p.G994fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657																																						ENST00000371817.3																			1	Insertion - Frameshift(1)	p.G997fs*17(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2980-2982)ggfs		collagen, type V, alpha 1							67.0	67.0	67.0					9																	137693829		2203	4299	6502	SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137693829delC	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2982delC	9.37:g.137693829delC	ENSP00000360882:p.Gly994fs						p.G994fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	38	3396	+		Myeloproliferative disorder(178;0.0341)	994			Triple-helical region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.2982delC	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	682						9	682	---	---	---	---
EXD3	54932	broad.mit.edu	37	9	140267462	140267462	+	Frame_Shift_Del	DEL	G	G	-	rs200027265		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:140267462delG	ENST00000340951.4	-	5	552	c.357delC	c.(355-357)cccfs	p.P119fs	EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCGCAAGGCTGGGGGGGCTCT	0.647																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(355-357)ccfs		exonuclease 3'-5' domain containing 3																																				SO:0001589	frameshift_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267462delG		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.357delC	9.37:g.140267462delG	ENSP00000340474:p.Pro119fs					EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs	p.P119fs	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	552	-			119					Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL	ENST00000340951.4	37	c.357delC	CCDS48066.1																																																																																				0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		7	646						7	646	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34671501	34671501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:34671501delT	ENST00000374789.3	-	9	1691	c.1366delA	c.(1366-1368)atafs	p.I456fs	PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	456					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTCTTGCCTATTTTTTTGGTG	0.433																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1366-1368)tafs		par-3 family cell polarity regulator							119.0	117.0	118.0					10																	34671501		2203	4300	6503	SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671501delT	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1366delA	10.37:g.34671501delT	ENSP00000363921:p.Ile456fs					PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs	p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1691	-		Breast(68;0.0707)	456					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Del	DEL	ENST00000374789.3	37	c.1366delA	CCDS7178.1																																																																																				0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		9	635						9	635	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	418						12	418	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:61828745_61828747delGTG	ENST00000280772.2	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11890-11895)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828745_61828747delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11892_11894delCAC	10.37:g.61828754_61828756delGTG	ENSP00000280772:p.Thr3965del					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.TT3964del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12083_12085	-			3964			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11892_11894delCAC	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	581						9	581	---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1.0			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	308						7	308	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(961-963)gfs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	p.E321fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		7	149						7	149	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75673298	75673298	+	Intron	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000372764.3_Splice_Site_p.G154fs|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156.0	188.0	177.0					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		8	1699						8	1699	---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)aatfs	p.N110fs	AP003733.1_ENST00000601917.1_5'Flank|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(328-330)atfs		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						193.0	185.0	188.0					11																	61732517		1894	4106	6000	SO:0001589	frameshift_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732517delT		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.329delA	11.37:g.61732517delT	ENSP00000273550:p.Asn110fs					FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	p.N110fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			3	563	-			110			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Frame_Shift_Del	DEL	ENST00000273550.7	37	c.329delA	CCDS41655.1																																																																																				0.423	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		7	1113						7	1113	---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66625231	66625233	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:66625231_66625233delCTG	ENST00000309602.4	+	1	259_261	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000531590.1_3'UTR|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	10						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCCGCCGCTCCTGCTGCTGCTGC	0.719																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(16-18)del		leucine rich repeat and fibronectin type III domain containing 4			,,,	48,4006		2,44,1981					,,,	0.9	1.0			14	131,7663		10,111,3776	no	coding,intron,intron,intron	PC,LRFN4	NM_024036.4,NM_022172.2,NM_001040716.1,NM_000920.3	,,,	12,155,5757	A1A1,A1R,RR		1.6808,1.184,1.5108	,,,	,,,		179,11669				SO:0001651	inframe_deletion	78999					integral to membrane		g.chr11:66625231_66625233delCTG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.16_18delCTG	11.37:g.66625240_66625242delCTG	ENSP00000312535:p.Leu10del					LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR	p.L10del	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	259_261	+			10					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	In_Frame_Del	DEL	ENST00000309602.4	37	c.16_18delCTG	CCDS8153.1																																																																																				0.719	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		9	228						9	228	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96515000	+	lincRNA	DEL	AA	AA	-	rs67317023|rs149392521		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:96514999_96515000delAA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaaa	0.371																																						ENST00000527528.1																			0																																																			0							g.chr11:96514999_96515000delAA																													11.37:g.96515009_96515010delAA														0	158	+									RNA	DEL	ENST00000527528.1	37																																																																																						0.371	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			8	51						8	51	---	---	---	---
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-	rs570768621|rs199676861	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aaafs	p.K71fs	CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	3	0.000599042	0.0008	0.0014	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0					ENST00000532917.1																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	GRCh37	CM983819	CD3G	M		c.(205-207)aafs		CD3g molecule, gamma (CD3-TCR complex)							100.0	97.0	98.0					11																	118220583		2200	4296	6496	SO:0001589	frameshift_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118220583delA	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205delA	11.37:g.118220583delA	ENSP00000431445:p.Lys71fs					CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR	p.K71fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	273	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	71			Ig-like.		Q2HIZ6	Frame_Shift_Del	DEL	ENST00000532917.1	37	c.205delA	CCDS8395.1																																																																																				0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		13	387						13	387	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		10	1150						10	1150	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		11	639						11	639	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	476						8	476	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_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	1065						7	1065	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		12	970						12	970	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						ENST00000281589.3																			1	Deletion - Frameshift(1)	p.F335fs*19(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(997-999)aafs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1034	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		8	808						8	808	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCCCGGATTTTTTTTTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)tcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105.0	104.0	104.0					13																	95696016		2203	4300	6503	SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696016delT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3655delA	13.37:g.95696016delT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	p.I1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	ENST00000376887.4	37	c.3655delA	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		7	366						7	366	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899|rs78536283	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		8	307						8	307	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		8	621						8	621	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23333801	23333802	+	RNA	INS	-	-	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:23333801_23333802insA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		ACTTACAGTTCAAAAAAAAAAA	0.441																																						ENST00000560464.1																			0																																																			0							g.chr15:23333801_23333802insA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23333812_23333812dupA														0	908	-									RNA	INS	ENST00000560464.1	37																																																																																						0.441	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			11	74						11	74	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del	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	890	Poly-Glu.				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						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				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.chr15:65943128_65943130delGAG	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.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	162						7	162	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		13	40						13	40	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		16	1138						16	1138	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		7	1606						7	1606	---	---	---	---
ORAI3	93129	broad.mit.edu	37	16	30964972	30964974	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:30964972_30964974delGTG	ENST00000318663.4	+	2	919_921	c.695_697delGTG	c.(694-699)tgtggt>tgt	p.G236del	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_In_Frame_Del_p.G236del|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	236					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGCAAGCCTGTGGTGGTGGTGG	0.645											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(694-699)tgt>t		ORAI calcium release-activated calcium modulator 3																																				SO:0001651	inframe_deletion	93129					integral to membrane	protein binding	g.chr16:30964972_30964974delGTG	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.695_697delGTG	16.37:g.30964981_30964983delGTG	ENSP00000322249:p.Gly236del		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	ORAI3_ENST00000562699.1_Intron|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del	p.CG232del	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			2	919_921	+			232					Q96BI8	In_Frame_Del	DEL	ENST00000318663.4	37	c.695_697delGTG	CCDS10697.1																																																																																				0.645	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		7	824						7	824	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			11	299						11	299	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-	rs141826437	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_ENST00000536251.1_In_Frame_Del_p.189_190SS>S|RANBP10_ENST00000602677.1_In_Frame_Del_p.418_419SS>S|RANBP10_ENST00000448631.2_In_Frame_Del_p.362_363SS>S|RANBP10_ENST00000411657.2_In_Frame_Del_p.301_302SS>S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567																																						ENST00000317506.3																			2	Substitution - coding silent(2)	p.S418S(2)	endometrium(2)	endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1252-1257)tcg>tc		RAN binding protein 10																																				SO:0001651	inframe_deletion	57610							g.chr16:67763279_67763281delGAG	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1254_1256delCTC	16.37:g.67763288_67763290delGAG	ENSP00000316589:p.Ser422del					RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del	p.SS420del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1369_1371	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	420			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	In_Frame_Del	DEL	ENST00000317506.3	37	c.1254_1256delCTC	CCDS32469.1																																																																																				0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		7	204						7	204	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1771-1773)caafs		ZFP90 zinc finger protein																																				SO:0001589	frameshift_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598462_68598463insA	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1780dupA	16.37:g.68598470_68598470dupA	ENSP00000460547:p.Arg591fs					RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs	p.Q591fs			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2064_2065	+		Ovarian(137;0.192)	591					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Frame_Shift_Ins	INS	ENST00000570495.1	37	c.1772_1773insA	CCDS42183.1																																																																																				0.411	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		7	894						7	894	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	1573						7	1573	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	SOX15_ENST00000570788.1_5'Flank|MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			8	1500						8	1500	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	622						7	622	---	---	---	---
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-522)agaaaafs	p.RK173fs	TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.RK66fs|TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.RK66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441																																						ENST00000226230.6																			1	Deletion - Frameshift(1)	p.K176fs?(1)	lung(1)	endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(517-519)aaafs		transmembrane protein 97																																				SO:0001589	frameshift_variant	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653806_26653807insA	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.528dupA	17.37:g.26653816_26653816dupA	ENSP00000226230:p.Arg173fs					TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs	p.K173fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	663_664	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		173					B4DS02|Q07823	Frame_Shift_Ins	INS	ENST00000226230.6	37	c.518_519insA	CCDS11226.2																																																																																				0.441	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		13	263						13	263	---	---	---	---
LOC100294341	100294341	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478																																						ENST00000253803.2																			0																																																			0							g.chr17:43596433delT																													17.37:g.43596433delT														0	267	+									RNA	DEL	ENST00000253803.2	37																																																																																						0.478	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				11	3065						11	3065	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141015	66141016	+	RNA	INS	-	-	A	rs376314569		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:66141015_66141016insA	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		CCAAGATTTCTACAAAAAAAAA	0.322																																						ENST00000590019.1																			0																																																			0							g.chr17:66141015_66141016insA			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141016_66141016dupA														0	70	-									RNA	INS	ENST00000590019.1	37																																																																																						0.322	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			10	196						10	196	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112482	112482	+	RNA	DEL	C	C	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr18:112482delC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		AGGGGTGCTTCCAGCGAGGCG	0.622																																						ENST00000576266.1																			0																																																			0							g.chr18:112482delC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112482delC														0	116	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.622	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			10	129						10	129	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	97						7	97	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98.0	108.0	104.0					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			9	1010						9	1010	---	---	---	---
GTF2F1	2962	broad.mit.edu	37	19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)aagdel	p.K251del	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGTCTGAACCCTTCTTCTTCTTC	0.611																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(751-753)del		general transcription factor IIF, polypeptide 1, 74kDa																																				SO:0001651	inframe_deletion	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381791_6381793delCTT		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.751_753delAAG	19.37:g.6381800_6381802delCTT	ENSP00000377969:p.Lys251del					GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	p.K251del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			7	1215_1217	-			251					B2RCS0|Q9BWN0	In_Frame_Del	DEL	ENST00000394456.5	37	c.751_753delAAG	CCDS12165.1																																																																																				0.611	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		8	286						8	286	---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-	rs370485799		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:7987519delC	ENST00000221573.6	+	5	926	c.875delC	c.(874-876)accfs	p.T292fs	SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	292					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCAGAGGAGACCCCCCCAGCC	0.662																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(874-876)acfs		small nuclear RNA activating complex, polypeptide 2, 45kDa							54.0	72.0	66.0					19																	7987519		2203	4300	6503	SO:0001589	frameshift_variant	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987519delC	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.875delC	19.37:g.7987519delC	ENSP00000221573:p.Thr292fs					SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs	p.T292fs	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			5	926	+			292					B2RBZ6|D6W663|Q13486	Frame_Shift_Del	DEL	ENST00000221573.6	37	c.875delC	CCDS12190.1																																																																																				0.662	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		7	473						7	473	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		7	909						7	909	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		8	222						8	222	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA																							TCCCTGGAAAACACACACACAC	0.411																																						ENST00000590606.1																			0																																																			0							g.chr19:20243404_20243405delAC																													19.37:g.20243414_20243415delAC						CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA								0	188	-									RNA	DEL	ENST00000590606.1	37																																																																																						0.411	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			30	387						30	387	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		14	1040						14	1040	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.700	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	753						7	753	---	---	---	---
ALDH16A1	126133	broad.mit.edu	37	19	49967177	49967177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:49967177delC	ENST00000293350.4	+	9	1328	c.1165delC	c.(1165-1167)cccfs	p.P390fs	CTD-3148I10.9_ENST00000599536.1_Frame_Shift_Del_p.A24fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Del_p.P227fs|ALDH16A1_ENST00000455361.2_Frame_Shift_Del_p.P339fs|ALDH16A1_ENST00000433981.2_Frame_Shift_Del_p.P225fs	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	390						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTCCAACCTGCCCCCAGCCTC	0.602																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1165-1167)ccfs		aldehyde dehydrogenase 16 family, member A1							185.0	187.0	186.0					19																	49967177		2203	4300	6503	SO:0001589	frameshift_variant	126133						oxidoreductase activity|protein binding	g.chr19:49967177delC	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1165delC	19.37:g.49967177delC	ENSP00000293350:p.Pro390fs					ALDH16A1_ENST00000433981.2_Frame_Shift_Del_p.P225fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Del_p.P227fs|ALDH16A1_ENST00000455361.2_Frame_Shift_Del_p.P339fs|CTD-3148I10.9_ENST00000599536.1_Frame_Shift_Del_p.A24fs	p.P390fs	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	9	1328	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	390					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Frame_Shift_Del	DEL	ENST00000293350.4	37	c.1165delC	CCDS12766.1																																																																																				0.602	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		8	1349						8	1349	---	---	---	---
NUP62	23636	broad.mit.edu	37	19	50412206	50412208	+	In_Frame_Del	DEL	TGC	TGC	-	rs564852163		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:50412206_50412208delTGC	ENST00000596217.1	-	2	2744_2746	c.857_859delGCA	c.(856-861)agcacc>acc	p.S286del	NUP62_ENST00000352066.3_In_Frame_Del_p.S286del|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_In_Frame_Del_p.S286del|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_In_Frame_Del_p.S286del|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_In_Frame_Del_p.S286del|NUP62_ENST00000597723.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	286	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGCCggtggtgctgctgctgct	0.635																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(856-861)acc>a		nucleoporin 62kDa																																				SO:0001651	inframe_deletion	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412206_50412208delTGC	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.857_859delGCA	19.37:g.50412215_50412217delTGC	ENSP00000471191:p.Ser286del					IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_In_Frame_Del_p.ST286del|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000413454.1_In_Frame_Del_p.ST286del|NUP62_ENST00000597029.1_In_Frame_Del_p.ST286del|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_In_Frame_Del_p.ST286del	p.ST286del			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2744_2746	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	286			15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	In_Frame_Del	DEL	ENST00000596217.1	37	c.857_859delGCA	CCDS12788.1																																																																																				0.635	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		7	331						7	331	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			10	603						10	603	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39830891	39830891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:39830891delT	ENST00000309060.3	-	4	3081	c.2666delA	c.(2665-2667)gagfs	p.E890fs	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	890					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGGTCTCCTCCCCCATTTT	0.552																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2665-2667)ggfs		zinc fingers and homeoboxes 3							214.0	201.0	205.0					20																	39830891		2203	4300	6503	SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830891delT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2666delA	20.37:g.39830891delT	ENSP00000312222:p.Glu890fs					ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.E890fs	p.E890fs			Q9H4I2	ZHX3_HUMAN			4	3081	-		Myeloproliferative disorder(115;0.00425)	890					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.2666delA	CCDS13315.1																																																																																				0.552	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		7	1387						7	1387	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989891	47989891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:47989891delG	ENST00000371741.4	-	2	2372	c.2206delC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCAGGAGACCGGGGGGGTGTC	0.562																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)ggfs		potassium voltage-gated channel, Shab-related subfamily, member 1							67.0	72.0	70.0					20																	47989891		2203	4300	6503	SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989891delG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2206delC	20.37:g.47989891delG	ENSP00000360806:p.Arg736fs						p.R736fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372	-			736					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.2206delC	CCDS13418.1																																																																																				0.562	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		8	557						8	557	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C	rs570895195		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)gccfs	p.A49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728																																						ENST00000371030.2																			1	Insertion - Frameshift(1)	p.T52fs*47(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(145-147)cccfs		zinc finger protein 831				44,3536		1,42,1747						2.3	0.9			18	50,7732		0,50,3841	no	frameshift	ZNF831	NM_178457.1		1,92,5588	A1A1,A1R,RR		0.6425,1.2291,0.8273				94,11268				SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766219_57766220insC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.153dupC	20.37:g.57766227_57766227dupC	ENSP00000360069:p.Ala49fs						p.P49fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	145_146	+	all_lung(29;0.0085)		49			Pro-rich.		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	ENST00000371030.2	37	c.145_146insC	CCDS42894.1																																																																																				0.728	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		7	284						7	284	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661172	22661173	+	RNA	INS	-	-	C	rs377142963|rs7410785|rs60559515	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:22661172_22661173insC	ENST00000426066.1	+	0	264_265					NR_027293.1				BMS1 pseudogene 20																		CATACAGGTTTTCCCCCCCCAC	0.411																																						ENST00000426066.1																			0																																																			0							g.chr22:22661172_22661173insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661172_22661173insC								NR_027293.1						0	264_265	+									RNA	INS	ENST00000426066.1	37																																																																																						0.411	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	203						8	203	---	---	---	---
KDELR3	11015	broad.mit.edu	37	22	38881965	38881967	+	IGR	DEL	GGA	GGA	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:38881965_38881967delGGA	ENST00000216014.4	+	0	1728				DDX17_ENST00000396821.3_In_Frame_Del_p.723_724PP>P|DDX17_ENST00000381633.3_In_Frame_Del_p.644_645PP>P|DDX17_ENST00000444597.1_In_Frame_Del_p.173_174PP>P	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					aggaggagggggaggaggaggag	0.478																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2167-2172)ccc>cc		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38881965_38881967delGGA	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881974_38881976delGGA						DDX17_ENST00000444597.1_In_Frame_Del_p.PP177del|DDX17_ENST00000381633.3_In_Frame_Del_p.PP648del	p.PP727del	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			13	2268_2270	-	Melanoma(58;0.0286)		646					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	In_Frame_Del	DEL	ENST00000216014.4	37	c.2169_2171delTCC	CCDS13972.1																																																																																				0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			7	462						7	462	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-	rs200555648	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.660	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		10	306						10	306	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		23	553						23	553	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.650	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	984						7	984	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		10	457						10	457	---	---	---	---
MLC1	23209	broad.mit.edu	37	22	50502593	50502595	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:50502593_50502595delAGC	ENST00000311597.5	-	11	1533_1535	c.927_929delGCT	c.(925-930)ctgcta>cta	p.309_310LL>L	MLC1_ENST00000395876.2_In_Frame_Del_p.309_310LL>L|MLC1_ENST00000431262.2_In_Frame_Del_p.279_280LL>L|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000535444.1_In_Frame_Del_p.230_231LL>L|MLC1_ENST00000450140.2_In_Frame_Del_p.257_258LL>L|MLC1_ENST00000538737.1_In_Frame_Del_p.275_276LL>L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	309			L -> M (in a pedigree affected by schizophrenia; dbSNP:rs80358240). {ECO:0000269|PubMed:11326298}.		caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		caggagcactagcagcagcagca	0.655																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18	GRCh37	CD030152	MLC1	D		c.(925-930)cta>ct		megalencephalic leukoencephalopathy with subcortical cysts 1																																				SO:0001651	inframe_deletion	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50502593_50502595delAGC	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.927_929delGCT	22.37:g.50502602_50502604delAGC	ENSP00000310375:p.Leu310del					MLC1_ENST00000538737.1_In_Frame_Del_p.LL275del|MLC1_ENST00000395876.2_In_Frame_Del_p.LL309del|MLC1_ENST00000450140.2_In_Frame_Del_p.LL257del|MLC1_ENST00000431262.2_In_Frame_Del_p.LL279del|MLC1_ENST00000535444.1_In_Frame_Del_p.LL230del|MLC1_ENST00000483836.1_5'UTR	p.LL309del	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	11	1533_1535	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	309		L -> M (in a pedigree affected by schizophrenia).			B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	In_Frame_Del	DEL	ENST00000311597.5	37	c.927_929delGCT	CCDS14083.1																																																																																				0.655	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		7	186						7	186	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		15	76						15	76	---	---	---	---
GSPT2	23708	broad.mit.edu	37	X	51486733	51486735	+	In_Frame_Del	DEL	GCA	GCA	-	rs17853537		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:51486733_51486735delGCA	ENST00000340438.4	+	1	253_255	c.11_13delGCA	c.(10-15)ggcagc>ggc	p.S8del		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	8					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATGGATTCGGGCAGCAGCAGCAG	0.68																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(10-15)ggc>g		G1 to S phase transition 2				33,3656		2,18,11,1565,508						2.7	0.3			20	67,6353		6,27,28,2315,1696	no	coding	GSPT2	NM_018094.4		8,45,39,3880,2204	A1A1,A1R,A1,RR,R		1.0436,0.8946,0.9892				100,10009				SO:0001651	inframe_deletion	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51486733_51486735delGCA	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.11_13delGCA	X.37:g.51486742_51486744delGCA	ENSP00000341247:p.Ser8del						p.GS4del	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	253_255	+	Ovarian(276;0.236)		4					Q9H909|Q9NVY0|Q9NY44	In_Frame_Del	DEL	ENST00000340438.4	37	c.11_13delGCA	CCDS14336.1																																																																																				0.680	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			7	352						7	352	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		10	1043						10	1043	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		9	1137						9	1137	---	---	---	---
