#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
DFFA	1676	broad.mit.edu	37	1	10523170	10523170	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:10523170G>A	ENST00000377038.3	-	5	795	c.728C>T	c.(727-729)aCt>aTt	p.T243I	DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	243					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCTCAGTGCAGTAAGGATGTG	0.577																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(727-729)aCt>aTt		DNA fragmentation factor, 45kDa, alpha polypeptide							106.0	83.0	91.0					1																	10523170		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523170G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.728C>T	1.37:g.10523170G>A	ENSP00000366237:p.Thr243Ile					DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	795	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	243					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.728C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734428	0.48939	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.06	0.819	0.18785	DNA fragmentation factor 45kDa, C-terminal (3);	0.658370	0.16804	N	0.198857	T	0.18341	0.0440	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.004;0.005	T	0.13548	-1.0505	9	0.33940	T	0.23	0.2427	3.3386	0.07110	0.1511:0.1339:0.5766:0.1384	.	243;243	O00273-2;O00273	.;DFFA_HUMAN	I	243	.	ENSP00000366235:T243I	T	-	2	0	DFFA	10445757	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	0.777000	0.26718	0.140000	0.18849	0.650000	0.86243	ACT		0.577	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		4	75	0	0	0	0.001168	0	4	75				
RNF220	55182	broad.mit.edu	37	1	44878184	44878184	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:44878184G>A	ENST00000355387.2	+	2	865	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T			Q5VTB9	RN220_HUMAN	ring finger protein 220	139					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTACGCCGGCCAAGCGACT	0.547																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(415-417)Gcc>Acc		ring finger protein 220							84.0	84.0	84.0					1																	44878184		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878184G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.415G>A	1.37:g.44878184G>A	ENSP00000347548:p.Ala139Thr					RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T	p.A139T			Q5VTB9	RN220_HUMAN			2	865	+			139					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.415G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627755	0.87560	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.56788	0.806	T	0.64537	-0.6384	9	0.54805	T	0.06	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	139	Q5VTB9	RN220_HUMAN	T	139	.	ENSP00000347548:A139T	A	+	1	0	RNF220	44650771	1.000000	0.71417	0.910000	0.35882	0.957000	0.61999	9.230000	0.95299	2.684000	0.91462	0.655000	0.94253	GCC		0.547	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		4	118	0	0	0	0.000248	0	4	118				
TCF21	6943	broad.mit.edu	37	6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	TCF21_ENST00000237316.3_Missense_Mutation_p.T176S|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TTATGTGGAACCACCGCGTCC	0.657																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(526-528)aCc>aGc		transcription factor 21							48.0	50.0	49.0					6																	134212927		2203	4300	6503	SO:0001583	missense	0				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134212927C>G	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.527C>G	6.37:g.134212927C>G	ENSP00000356857:p.Thr176Ser					RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S	p.T176S	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	2	787	+	Colorectal(23;0.221)|Breast(56;0.247)		176					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.527C>G	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148302	0.78001	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96491	-4.03;-4.03	5.45	5.45	0.79879	.	0.109437	0.64402	D	0.000008	D	0.91395	0.7285	L	0.47716	1.5	0.50313	D	0.999864	B	0.33964	0.434	B	0.26202	0.067	D	0.90575	0.4525	10	0.26408	T	0.33	-22.6944	19.2772	0.94036	0.0:1.0:0.0:0.0	.	176	O43680	TCF21_HUMAN	S	176	ENSP00000356857:T176S;ENSP00000237316:T176S	ENSP00000237316:T176S	T	+	2	0	TCF21	134254620	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.630000	0.83225	2.554000	0.86153	0.650000	0.86243	ACC		0.657	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		5	41	0	0	0	0.001168	0	5	41				
IL1RAPL1	11141	broad.mit.edu	37	X	29972719	29972719	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:29972719C>T	ENST00000378993.1	+	10	1955	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	428	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAGAAGAACGTTTTGCCCT	0.353																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1282-1284)Cgt>Tgt		interleukin 1 receptor accessory protein-like 1							108.0	91.0	97.0					X																	29972719		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972719C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1282C>T	X.37:g.29972719C>T	ENSP00000368278:p.Arg428Cys					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			10	1955	+			428			TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1282C>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753184	0.49362	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08102	3.13;3.13	5.81	3.87	0.44632	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.046857	0.85682	D	0.000000	T	0.12305	0.0299	L	0.36672	1.1	0.45025	D	0.998042	D	0.71674	0.998	P	0.54924	0.764	T	0.07139	-1.0788	9	.	.	.	.	9.9095	0.41397	0.1906:0.722:0.0:0.0874	.	428	Q9NZN1	IRPL1_HUMAN	C	428	ENSP00000368278:R428C;ENSP00000305200:R428C	.	R	+	1	0	IL1RAPL1	29882640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.981000	0.49329	1.209000	0.43321	0.594000	0.82650	CGT		0.353	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		23	21	0	0	0	0.003954	0	23	21				
OR2AG2	338755	broad.mit.edu	37	11	6789258	6789258	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(931-933)Ctg>Ttg		olfactory receptor, family 2, subfamily AG, member 2							82.0	75.0	78.0					11																	6789258		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789258G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.931C>T	11.37:g.6789258G>A							p.L311L	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1028	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	311						Silent	SNP	ENST00000338569.2	37	c.931C>T	CCDS31413.1																																																																																				0.483	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		3	79	0	0	0	0.004672	0	3	79				
DYNC1I1	1780	broad.mit.edu	37	7	95705500	95705500	+	Silent	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000537881.1_Silent_p.N527N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1690-1692)aaT>aaC		dynein, cytoplasmic 1, intermediate chain 1							56.0	53.0	54.0					7																	95705500		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95705500T>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1692T>C	7.37:g.95705500T>C			OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000437599.1_Silent_p.N544N	p.N564N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		15	1885	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		564					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1692T>C	CCDS5644.1																																																																																				0.642	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		10	20	0	0	0	0.000978	0	10	20				
NKIRAS2	28511	broad.mit.edu	37	17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612																																						ENST00000307641.5																			0				large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(499-501)aAg>aGg		NFKB inhibitor interacting Ras-like 2							93.0	89.0	90.0					17																	40175835		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175835A>G	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.500A>G	17.37:g.40175835A>G	ENSP00000303580:p.Lys167Arg					NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R	p.K167R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN			4	1121	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	167			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.500A>G	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394810	0.25205	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.92	3.72	0.42706	.	0.043780	0.85682	N	0.000000	T	0.61578	0.2358	N	0.16098	0.37	0.58432	D	0.999999	B;B	0.14438	0.01;0.006	B;B	0.20184	0.013;0.028	T	0.53129	-0.8482	10	0.44086	T	0.13	-11.8755	10.2735	0.43497	0.867:0.0:0.133:0.0	.	111;167	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	R	167;165;167;167;167;111;205	ENSP00000303580:K167R;ENSP00000377462:K165R;ENSP00000377458:K167R;ENSP00000377459:K167R;ENSP00000377463:K167R;ENSP00000312773:K205R	ENSP00000303580:K167R	K	+	2	0	NKIRAS2	37429361	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.324000	0.72896	0.501000	0.28013	0.383000	0.25322	AAG		0.612	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		5	71	0	0	0	0.000602	0	5	71				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			5	73	0	0	0	0.000602	0	5	73				
UBE2O	63893	broad.mit.edu	37	17	74396560	74396560	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:74396560G>A	ENST00000319380.7	-	7	1030	c.966C>T	c.(964-966)agC>agT	p.S322S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	322					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGTGGGGGGCTGACGCTGT	0.607																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(964-966)agC>agT		ubiquitin-conjugating enzyme E2O							64.0	60.0	61.0					17																	74396560		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74396560G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.966C>T	17.37:g.74396560G>A							p.S322S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			7	1030	-			322					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.966C>T	CCDS32742.1																																																																																				0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		7	35	0	0	0	0.006214	0	7	35				
KCNK3	3777	broad.mit.edu	37	2	26950776	26950776	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:26950776C>T	ENST00000302909.3	+	2	650	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCATCGGCGCCGCCGCCTTCT	0.637																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(523-525)gcC>gcT		potassium channel, subfamily K, member 3							60.0	54.0	56.0					2																	26950776		2203	4300	6503	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950776C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.525C>T	2.37:g.26950776C>T							p.A175A	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	650	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		175					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.525C>T	CCDS1727.1																																																																																				0.637	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		7	37	0	0	0	0.003080	0	7	37				
ABCC5	10057	broad.mit.edu	37	3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T	rs201003374		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AAACTCCTGCCCTTTATTGTA	0.562																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3208-3210)gGg>gAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							90.0	93.0	92.0					3																	183667559		2059	4185	6244	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667559C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3209G>A	3.37:g.183667559C>T	ENSP00000333926:p.Gly1070Glu					ABCC5_ENST00000265586.6_Intron	p.G1070E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3449	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1070			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3209G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243167	0.10077	.	.	ENSG00000114770	ENST00000334444	D	0.84516	-1.86	5.54	5.54	0.83059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.199311	0.53938	D	0.000047	T	0.65281	0.2676	N	0.01464	-0.85	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.66364	-0.5942	10	0.02654	T	1	-15.2591	19.5024	0.95100	0.0:1.0:0.0:0.0	.	1070	O15440	MRP5_HUMAN	E	1070	ENSP00000333926:G1070E	ENSP00000333926:G1070E	G	-	2	0	ABCC5	185150253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.965000	0.56788	2.607000	0.88179	0.655000	0.94253	GGG		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		11	35	0	0	0	0.001368	0	11	35				
PCF11	51585	broad.mit.edu	37	11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1777-1779)Tct>Act		PCF11 cleavage and polyadenylation factor subunit							71.0	72.0	71.0					11																	82877716		1780	3938	5718	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877716T>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1777T>A	11.37:g.82877716T>A	ENSP00000298281:p.Ser593Thr						p.S593T	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2229	+			593					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1777T>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966995	0.34754	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46819	1.87;0.88;0.86	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000015	T	0.31167	0.0788	N	0.24115	0.695	0.28001	N	0.935292	P;B	0.39782	0.688;0.231	B;B	0.33750	0.169;0.081	T	0.26155	-1.0111	9	.	.	.	.	12.4108	0.55466	0.0:0.0:0.2563:0.7436	.	593;593	E9PQ01;O94913	.;PCF11_HUMAN	T	593	ENSP00000298281:S593T;ENSP00000434540:S593T;ENSP00000431567:S593T	.	S	+	1	0	PCF11	82555364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.160000	0.42348	2.326000	0.78906	0.533000	0.62120	TCT		0.363	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	72	0	0	0	0.008361	0	24	72				
TACC2	10579	broad.mit.edu	37	10	123843719	123843719	+	Silent	SNP	A	A	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTAAAGAAGGAAGCAGATCAC	0.592																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1702-1704)ggA>ggT		transforming, acidic coiled-coil containing protein 2							63.0	70.0	68.0					10																	123843719		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843719A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1704A>T	10.37:g.123843719A>T						TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G	p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2044	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	568					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1704A>T	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	27	0	0	0	0.004007	0	13	27				
HDAC9	9734	broad.mit.edu	37	7	18687446	18687446	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:18687446G>A	ENST00000432645.2	+	9	1065	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000406451.4_Silent_p.T355T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000456174.2_Silent_p.T327T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	355					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGTGTGAGACGCAGACGCTTA	0.493																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1063-1065)acG>acA		histone deacetylase 9	Valproic Acid(DB00313)						34.0	35.0	34.0					7																	18687446		2045	4192	6237	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18687446G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1065G>A	7.37:g.18687446G>A						HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000428307.2_Silent_p.T311T	p.T355T	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			10	1215	+	all_lung(11;0.187)		355					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1065G>A	CCDS47555.1																																																																																				0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	12	0	0	0	0.001168	0	5	12				
FLT4	2324	broad.mit.edu	37	5	180057599	180057599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr5:180057599C>T	ENST00000261937.6	-	3	434	c.356G>A	c.(355-357)cGc>cAc	p.R119H	FLT4_ENST00000393347.3_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	119	Ig-like C2-type 1.				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)	GCCCTCGATGCGTGCCTTGAT	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.(355-357)cGc>cAc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						175.0	135.0	148.0					5																	180057599		2202	4299	6501	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.chr5:180057599C>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.356G>A	5.37:g.180057599C>T	ENSP00000261937:p.Arg119His					FLT4_ENST00000393347.3_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H	p.R119H	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)	3	434	-	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)	119			Ig-like C2-type 1.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.356G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501412	0.44455	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77489	-1.1;-1.1;-1.1	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69611	0.3130	L	0.60455	1.87	0.26761	N	0.969996	P;B;B;B;B	0.41929	0.765;0.103;0.084;0.001;0.008	B;B;B;B;B	0.32677	0.15;0.039;0.01;0.005;0.009	T	0.66803	-0.5831	9	0.46703	T	0.11	.	9.908	0.41388	0.0:0.8718:0.0:0.1282	.	119;119;119;119;119	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	H	119	ENSP00000261937:R119H;ENSP00000377016:R119H;ENSP00000426057:R119H	ENSP00000261937:R119H	R	-	2	0	FLT4	179990205	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.483000	0.45233	2.465000	0.83290	0.456000	0.33151	CGC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	42	0	0	0	0.001855	0	11	42				
PIK3R2	5296	broad.mit.edu	37	19	18277058	18277058	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:18277058G>A	ENST00000593731.1	+	12	2065	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S502N			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	502					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAGAAATGCAGCAAGGAATAC	0.562																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1504-1506)aGc>aAc		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							68.0	68.0	68.0					19																	18277058		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18277058G>A		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1505G>A	19.37:g.18277058G>A	ENSP00000471914:p.Ser502Asn					PIK3R2_ENST00000222254.7_Missense_Mutation_p.S502N	p.S502N			O00459	P85B_HUMAN			12	2065	+			502					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1505G>A	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386221	0.61956	.	.	ENSG00000105647	ENST00000222254	T	0.50001	0.76	4.37	4.37	0.52481	.	0.043016	0.85682	D	0.000000	T	0.65616	0.2708	M	0.83312	2.635	0.80722	D	1	D	0.58268	0.982	P	0.54965	0.765	T	0.72795	-0.4185	10	0.59425	D	0.04	-49.9238	16.7884	0.85580	0.0:0.0:1.0:0.0	.	502	O00459	P85B_HUMAN	N	502	ENSP00000222254:S502N	ENSP00000222254:S502N	S	+	2	0	PIK3R2	18138058	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.682000	0.84083	2.378000	0.81104	0.561000	0.74099	AGC		0.562	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		3	49	0	0	0	0.004672	0	3	49				
KRTAP9-9	81870	broad.mit.edu	37	17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	129	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(430-432)tGc>tAc		keratin associated protein 9-9							155.0	163.0	160.0					17																	39412068		2203	4300	6503	SO:0001583	missense	81870					keratin filament		g.chr17:39412068G>A	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.431G>A	17.37:g.39412068G>A	ENSP00000377576:p.Cys144Tyr						p.C144Y	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	433	+		Breast(137;0.000496)	144					B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	c.431G>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.731834	0.69189	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.05139	3.49	2.97	1.93	0.25924	.	.	.	.	.	T	0.28200	0.0696	M	0.92970	3.365	0.28324	N	0.922107	D	0.69078	0.997	D	0.67900	0.954	T	0.08106	-1.0738	9	0.46703	T	0.11	.	9.9663	0.41727	0.0:0.211:0.789:0.0	.	129	Q9BYP9	KRA99_HUMAN	Y	150;144	ENSP00000377576:C144Y	ENSP00000377576:C144Y	C	+	2	0	KRTAP9-9	36665594	0.991000	0.36638	0.341000	0.25589	0.703000	0.40648	1.764000	0.38471	0.491000	0.27793	0.205000	0.17691	TGC		0.612	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		7	251	0	0	0	0.001984	0	7	251				
ASXL1	171023	broad.mit.edu	37	20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1413					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(4237-4239)Tta>Gta		additional sex combs like 1 (Drosophila)							107.0	112.0	110.0					20																	31024752		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024752T>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4237T>G	20.37:g.31024752T>G	ENSP00000364839:p.Leu1413Val					ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	p.L1413V	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4661	+			1413					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.4237T>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691121	0.30052	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.30981	1.53;1.51	4.42	2.19	0.27852	.	0.098308	0.37393	N	0.002105	T	0.22898	0.0553	L	0.34521	1.04	0.29815	N	0.83133	P;P	0.52316	0.884;0.952	B;B	0.43754	0.43;0.368	T	0.11991	-1.0565	10	0.62326	D	0.03	-0.624	7.9846	0.30205	0.0:0.2478:0.0:0.7522	.	1408;1413	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1413;1413;1413;1334;1408	ENSP00000364839:L1413V;ENSP00000305119:L1408V	ENSP00000305119:L1408V	L	+	1	2	ASXL1	30488413	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.947000	0.29082	0.486000	0.27676	0.533000	0.62120	TTA		0.542	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		3	162	0	0	0	0.000248	0	3	162				
KCNB2	9312	broad.mit.edu	37	8	73849007	73849007	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:73849007G>A	ENST00000523207.1	+	3	2005	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	473					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGAGAAGGCCGGAGAGTCCGC	0.527																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1417-1419)Gga>Aga		potassium voltage-gated channel, Shab-related subfamily, member 2							71.0	78.0	76.0					8																	73849007		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849007G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1417G>A	8.37:g.73849007G>A	ENSP00000430846:p.Gly473Arg						p.G473R	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2005	+	Breast(64;0.137)		473					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1417G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767350	0.15983	.	.	ENSG00000182674	ENST00000523207	T	0.25414	1.8	5.74	5.74	0.90152	.	0.524504	0.15755	N	0.246231	T	0.44350	0.1289	L	0.55990	1.75	0.09310	N	0.999994	D	0.63880	0.993	P	0.56700	0.804	T	0.28364	-1.0046	10	0.45353	T	0.12	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	473	Q92953	KCNB2_HUMAN	R	473	ENSP00000430846:G473R	ENSP00000430846:G473R	G	+	1	0	KCNB2	74011561	1.000000	0.71417	0.756000	0.31282	0.160000	0.22226	8.007000	0.88571	2.702000	0.92279	0.655000	0.94253	GGA		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		28	102	0	0	0	0.008361	0	28	102				
EPG5	57724	broad.mit.edu	37	18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr18:43497668T>C	ENST00000282041.5	-	17	3249	c.3215A>G	c.(3214-3216)cAg>cGg	p.Q1072R	EPG5_ENST00000585906.1_5'Flank	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGGTAATACTGGCAAGGGTA	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3214-3216)cAg>cGg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							172.0	159.0	163.0					18																	43497668		1880	4118	5998	SO:0001583	missense	57724				autophagy			g.chr18:43497668T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3215A>G	18.37:g.43497668T>C	ENSP00000282041:p.Gln1072Arg						p.Q1072R	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			17	3249	-			1072					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3215A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	6.303	0.424076	0.11928	.	.	ENSG00000152223	ENST00000282041	T	0.09911	2.93	5.4	5.4	0.78164	.	1.079280	0.06987	N	0.820984	T	0.17577	0.0422	L	0.59436	1.845	0.41689	D	0.989331	B;B	0.28082	0.2;0.2	B;B	0.26416	0.069;0.069	T	0.06752	-1.0809	10	0.48119	T	0.1	-15.201	15.712	0.77635	0.0:0.0:0.0:1.0	.	1072;1072	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	1072	ENSP00000282041:Q1072R	ENSP00000282041:Q1072R	Q	-	2	0	EPG5	41751666	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	3.489000	0.53237	2.178000	0.69098	0.533000	0.62120	CAG		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		45	126	0	0	0	0.003610	0	45	126				
TRIP10	9322	broad.mit.edu	37	19	6750305	6750305	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:6750305G>A	ENST00000313244.9	+	13	1433	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TRIP10_ENST00000313285.8_Silent_p.A410A|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Silent_p.A302A|TRIP10_ENST00000596758.1_Silent_p.A410A			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(904-906)gcG>gcA		thyroid hormone receptor interactor 10							54.0	63.0	60.0					19																	6750305		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750305G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1398G>A	19.37:g.6750305G>A						TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA	p.A302A			Q15642	CIP4_HUMAN			12	1552	+			466			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.906G>A																																																																																					0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			30	145	0	0	0	0.004878	0	30	145				
LRP6	4040	broad.mit.edu	37	12	12397551	12397551	+	Silent	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr12:12397551G>T	ENST00000261349.4	-	2	170	c.94C>A	c.(94-96)Cga>Aga	p.R32R	LRP6_ENST00000543091.1_Silent_p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	32	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R32*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAACCAATCGCAAGTCCCGT	0.413																																						ENST00000261349.4																			1	Substitution - Nonsense(1)	p.R32*(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(94-96)Cga>Aga		low density lipoprotein receptor-related protein 6							95.0	85.0	88.0					12																	12397551		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397551G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.94C>A	12.37:g.12397551G>T						LRP6_ENST00000543091.1_Silent_p.R32R	p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	170	-		Prostate(47;0.0865)	32			Beta-propeller 1.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.94C>A	CCDS8647.1																																																																																				0.413	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			11	44	1	0	0.00244969	0.002450	0.00353845	11	44				
BICD2	23299	broad.mit.edu	37	9	95477650	95477650	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr9:95477650G>C	ENST00000375512.3	-	7	2421	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G	BICD2_ENST00000356884.6_Missense_Mutation_p.A785G	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2353-2355)gCc>gGc		bicaudal D homolog 2 (Drosophila)							34.0	32.0	33.0					9																	95477650		2203	4299	6502	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95477650G>C	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2354C>G	9.37:g.95477650G>C	ENSP00000364662:p.Ala785Gly					BICD2_ENST00000375512.3_Missense_Mutation_p.A785G	p.A785G	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			7	2421	-			785			Interacts with RAB6A (By similarity).		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.2354C>G	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152367	0.94645	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.65178	-0.14;-0.14	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.84445	0.0585	10	0.87932	D	0	-25.4584	16.588	0.84732	0.0:0.0:1.0:0.0	.	785;785	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	G	785	ENSP00000349351:A785G;ENSP00000364662:A785G	ENSP00000349351:A785G	A	-	2	0	BICD2	94517471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.593000	0.87608	0.655000	0.94253	GCC		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		13	16	0	0	0	0.001368	0	13	16				
ZNF846	162993	broad.mit.edu	37	19	9868372	9868372	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:9868372G>A	ENST00000397902.2	-	6	1794	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTGTGGAACGAGCAAATGCT	0.433																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1381-1383)Cgt>Tgt		zinc finger protein 846							94.0	104.0	101.0					19																	9868372		2152	4281	6433	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868372G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1381C>T	19.37:g.9868372G>A	ENSP00000380999:p.Arg461Cys					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	p.R461C	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1794	-			461					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1381C>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	3.252	-0.153094	0.06585	.	.	ENSG00000196605	ENST00000397902	T	0.07567	3.18	2.14	-4.28	0.03732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08492	0.0211	L	0.28504	0.86	0.09310	N	1	D	0.71674	0.998	P	0.53549	0.729	T	0.10590	-1.0623	8	.	.	.	.	4.978	0.14151	0.4007:0.4065:0.1928:0.0	.	461	Q147U1	ZN846_HUMAN	C	461	ENSP00000380999:R461C	.	R	-	1	0	ZNF846	9729372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.708000	0.00103	-1.059000	0.03193	-0.266000	0.10368	CGT		0.433	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		13	62	0	0	0	0.001855	0	13	62				
KDM6A	7403	broad.mit.edu	37	X	44969495	44969495	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e28+1		lysine (K)-specific demethylase 6A							105.0	97.0	100.0					X																	44969495		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969495G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1G>A	X.37:g.44969495G>A						KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4217	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459215	0.84317	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7744	0.91904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44854439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.379000	0.81126	0.600000	0.82982	.		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	28	33	0	0	0	0.003271	0	28	33				
BPTF	2186	broad.mit.edu	37	17	65942002	65942002	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:65942002C>T	ENST00000321892.4	+	23	7617	c.7556C>T	c.(7555-7557)tCa>tTa	p.S2519L	BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L|BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2519					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGTCACAACCCCAG	0.453																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7555-7557)tCa>tTa		bromodomain PHD finger transcription factor							131.0	120.0	124.0					17																	65942002		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65942002C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7556C>T	17.37:g.65942002C>T	ENSP00000315454:p.Ser2519Leu					BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L|BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L	p.S2519L			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7617	+	all_cancers(12;6e-11)		2519					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7556C>T		.	.	.	.	.	.	.	.	.	.	C	16.80	3.224217	0.58668	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.63096	-0.02;0.1;0.02	6.16	6.16	0.99307	.	.	.	.	.	T	0.53302	0.1788	L	0.35723	1.085	0.09310	N	0.999992	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.11329	0.002;0.006;0.006	T	0.43798	-0.9369	9	0.52906	T	0.07	-3.2299	11.1404	0.48400	0.0:0.8609:0.0:0.1391	.	197;2393;2519	B4DJV8;Q12830-2;Q12830-4	.;.;.	L	2393;2519;2519;190	ENSP00000307208:S2393L;ENSP00000334351:S2519L;ENSP00000315454:S2519L	ENSP00000307208:S2393L	S	+	2	0	BPTF	63372464	0.054000	0.20591	0.997000	0.53966	0.957000	0.61999	2.736000	0.47385	2.937000	0.99478	0.650000	0.86243	TCA		0.453	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	88	0	0	0	0.001168	0	5	88				
EMILIN3	90187	broad.mit.edu	37	20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T	rs544595291		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17865	0.0		0.0	False		,,,				2504	0.0					ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(928-930)cGa>cAa		elastin microfibril interfacer 3							26.0	27.0	27.0					20																	39991280		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991280C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.929G>A	20.37:g.39991280C>T	ENSP00000332806:p.Arg310Gln						p.R310Q	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1121	-		Myeloproliferative disorder(115;0.00425)	310					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.929G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121232	0.20877	.	.	ENSG00000183798	ENST00000332312	T	0.13901	2.55	5.3	0.552	0.17230	.	0.760060	0.12107	N	0.498885	T	0.10895	0.0266	L	0.51422	1.61	0.09310	N	1	B	0.24043	0.096	B	0.11329	0.006	T	0.30119	-0.9989	9	.	.	.	-2.4682	5.629	0.17499	0.1326:0.4767:0.0:0.3907	.	310	Q9NT22	EMIL3_HUMAN	Q	310	ENSP00000332806:R310Q	.	R	-	2	0	EMILIN3	39424694	0.000000	0.05858	0.288000	0.24862	0.969000	0.65631	-2.079000	0.01369	0.237000	0.21200	0.462000	0.41574	CGA		0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		3	19	0	0	0	0.000248	0	3	19				
ADAM18	8749	broad.mit.edu	37	8	39525629	39525629	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525629G>T	ENST00000265707.5	+	14	1484	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGC	0.408																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1438-1440)gGc>gTc		ADAM metallopeptidase domain 18							235.0	210.0	219.0					8																	39525629		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525629G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1439G>T	8.37:g.39525629G>T	ENSP00000265707:p.Gly480Val					ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR	p.G480V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1484	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	480			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1439G>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630676	0.67015	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.39787	1.06;1.06	5.5	5.5	0.81552	ADAM, cysteine-rich (2);	0.000000	0.48767	D	0.000178	T	0.75852	0.3906	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.83267	-0.0045	10	0.87932	D	0	.	14.7732	0.69696	0.0:0.0:1.0:0.0	.	456;480	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	V	480;456;412	ENSP00000265707:G480V;ENSP00000369195:G456V	ENSP00000265707:G480V	G	+	2	0	ADAM18	39644786	1.000000	0.71417	0.936000	0.37596	0.987000	0.75469	5.199000	0.65152	2.868000	0.98415	0.555000	0.69702	GGC		0.408	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		52	203	1	0	2.40265e-35	0.003610	3.67464e-35	52	203				
SCN9A	6335	broad.mit.edu	37	2	167089856	167089856	+	Silent	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:167089856T>A	ENST00000409435.1	-	20	3917	c.3918A>T	c.(3916-3918)ggA>ggT	p.G1306G	SCN9A_ENST00000303354.6_Silent_p.G1307G|SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000375387.4_Silent_p.G1307G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1306					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)	TTACCCTCATTCCTTCAAATC	0.343																																						ENST00000303354.6																			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.(3919-3921)ggA>ggT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						37.0	36.0	36.0					2																	167089856		1904	4183	6087	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167089856T>A	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.3918A>T	2.37:g.167089856T>A						SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000409435.1_Silent_p.G1306G|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.G1307G	p.G1307G			Q15858	SCN9A_HUMAN			21	4261	-			1306					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.3921A>T	CCDS46441.1																																																																																				0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		4	8	0	0	0	0.000248	0	4	8				
ADAM18	8749	broad.mit.edu	37	8	39525630	39525630	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525630C>T	ENST00000265707.5	+	14	1485	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGAATGGCCGTTTGTGCA	0.403																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1438-1440)ggC>ggT		ADAM metallopeptidase domain 18							235.0	210.0	219.0					8																	39525630		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525630C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1440C>T	8.37:g.39525630C>T						ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR	p.G480G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1485	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	480			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.1440C>T	CCDS6113.1																																																																																				0.403	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		55	201	0	0	0	0.003610	0	55	201				
GPKOW	27238	broad.mit.edu	37	X	48973489	48973489	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:48973489G>A	ENST00000156109.5	-	6	886	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	270						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACCATGGCCCGAACATTGTCA	0.547																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(808-810)Cgg>Tgg		G patch domain and KOW motifs							105.0	80.0	89.0					X																	48973489		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973489G>A	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.808C>T	X.37:g.48973489G>A	ENSP00000156109:p.Arg270Trp						p.R270W	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			6	886	-			270					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.808C>T	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849656	0.71603	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	4.37	0.52481	KOW (1);	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	M	0.65975	2.015	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.77289	-0.2643	9	0.87932	D	0	-2.7937	11.4217	0.49985	0.0:0.0:0.673:0.327	.	270	Q92917	GPKOW_HUMAN	W	270	.	ENSP00000156109:R270W	R	-	1	2	GPKOW	48860433	0.985000	0.35326	0.562000	0.28370	0.985000	0.73830	2.346000	0.44027	1.089000	0.41292	0.597000	0.82753	CGG		0.547	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		16	45	0	0	0	0.008871	0	16	45				
ZNF761	388561	broad.mit.edu	37	19	53958820	53958820	+	RNA	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	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		4	241	0	0	0	0.000602	0	4	241				
RNF220	55182	broad.mit.edu	37	1	44878184	44878184	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:44878184G>A	ENST00000355387.2	+	2	865	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T			Q5VTB9	RN220_HUMAN	ring finger protein 220	139					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTACGCCGGCCAAGCGACT	0.547																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(415-417)Gcc>Acc		ring finger protein 220							84.0	84.0	84.0					1																	44878184		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878184G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.415G>A	1.37:g.44878184G>A	ENSP00000347548:p.Ala139Thr					RNF220_ENST00000361799.2_Missense_Mutation_p.A139T|RNF220_ENST00000372247.2_Missense_Mutation_p.A139T	p.A139T			Q5VTB9	RN220_HUMAN			2	865	+			139					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.415G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627755	0.87560	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.56788	0.806	T	0.64537	-0.6384	9	0.54805	T	0.06	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	139	Q5VTB9	RN220_HUMAN	T	139	.	ENSP00000347548:A139T	A	+	1	0	RNF220	44650771	1.000000	0.71417	0.910000	0.35882	0.957000	0.61999	9.230000	0.95299	2.684000	0.91462	0.655000	0.94253	GCC		0.547	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		4	118	0	0	0	0.000248	0	4	118				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	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_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	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	214	0	0	0	0.003080	0	7	214				
DFFA	1676	broad.mit.edu	37	1	10523170	10523170	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:10523170G>A	ENST00000377038.3	-	5	795	c.728C>T	c.(727-729)aCt>aTt	p.T243I	DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	243					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCTCAGTGCAGTAAGGATGTG	0.577																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(727-729)aCt>aTt		DNA fragmentation factor, 45kDa, alpha polypeptide							106.0	83.0	91.0					1																	10523170		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523170G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.728C>T	1.37:g.10523170G>A	ENSP00000366237:p.Thr243Ile					DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	795	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	243					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.728C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734428	0.48939	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.06	0.819	0.18785	DNA fragmentation factor 45kDa, C-terminal (3);	0.658370	0.16804	N	0.198857	T	0.18341	0.0440	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.004;0.005	T	0.13548	-1.0505	9	0.33940	T	0.23	0.2427	3.3386	0.07110	0.1511:0.1339:0.5766:0.1384	.	243;243	O00273-2;O00273	.;DFFA_HUMAN	I	243	.	ENSP00000366235:T243I	T	-	2	0	DFFA	10445757	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	0.777000	0.26718	0.140000	0.18849	0.650000	0.86243	ACT		0.577	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		4	75	0	0	0	0.001168	0	4	75				
TCF21	6943	broad.mit.edu	37	6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	TCF21_ENST00000237316.3_Missense_Mutation_p.T176S|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TTATGTGGAACCACCGCGTCC	0.657																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(526-528)aCc>aGc		transcription factor 21							48.0	50.0	49.0					6																	134212927		2203	4300	6503	SO:0001583	missense	0				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134212927C>G	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.527C>G	6.37:g.134212927C>G	ENSP00000356857:p.Thr176Ser					RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S	p.T176S	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	2	787	+	Colorectal(23;0.221)|Breast(56;0.247)		176					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.527C>G	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148302	0.78001	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96491	-4.03;-4.03	5.45	5.45	0.79879	.	0.109437	0.64402	D	0.000008	D	0.91395	0.7285	L	0.47716	1.5	0.50313	D	0.999864	B	0.33964	0.434	B	0.26202	0.067	D	0.90575	0.4525	10	0.26408	T	0.33	-22.6944	19.2772	0.94036	0.0:1.0:0.0:0.0	.	176	O43680	TCF21_HUMAN	S	176	ENSP00000356857:T176S;ENSP00000237316:T176S	ENSP00000237316:T176S	T	+	2	0	TCF21	134254620	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.630000	0.83225	2.554000	0.86153	0.650000	0.86243	ACC		0.657	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		5	41	0	0	0	0.001168	0	5	41				
IL1RAPL1	11141	broad.mit.edu	37	X	29972719	29972719	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrX:29972719C>T	ENST00000378993.1	+	10	1955	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	428	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAGAAGAACGTTTTGCCCT	0.353																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1282-1284)Cgt>Tgt		interleukin 1 receptor accessory protein-like 1							108.0	91.0	97.0					X																	29972719		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972719C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1282C>T	X.37:g.29972719C>T	ENSP00000368278:p.Arg428Cys					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			10	1955	+			428			TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1282C>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753184	0.49362	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08102	3.13;3.13	5.81	3.87	0.44632	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.046857	0.85682	D	0.000000	T	0.12305	0.0299	L	0.36672	1.1	0.45025	D	0.998042	D	0.71674	0.998	P	0.54924	0.764	T	0.07139	-1.0788	9	.	.	.	.	9.9095	0.41397	0.1906:0.722:0.0:0.0874	.	428	Q9NZN1	IRPL1_HUMAN	C	428	ENSP00000368278:R428C;ENSP00000305200:R428C	.	R	+	1	0	IL1RAPL1	29882640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.981000	0.49329	1.209000	0.43321	0.594000	0.82650	CGT		0.353	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		23	21	0	0	0	0.003954	0	23	21				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>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.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	74	0	0	0	0.003080	0	4	74				
OR2AG2	338755	broad.mit.edu	37	11	6789258	6789258	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(931-933)Ctg>Ttg		olfactory receptor, family 2, subfamily AG, member 2							82.0	75.0	78.0					11																	6789258		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789258G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.931C>T	11.37:g.6789258G>A							p.L311L	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1028	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	311						Silent	SNP	ENST00000338569.2	37	c.931C>T	CCDS31413.1																																																																																				0.483	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		3	79	0	0	0	0.004672	0	3	79				
DYNC1I1	1780	broad.mit.edu	37	7	95705500	95705500	+	Silent	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000537881.1_Silent_p.N527N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1690-1692)aaT>aaC		dynein, cytoplasmic 1, intermediate chain 1							56.0	53.0	54.0					7																	95705500		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95705500T>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1692T>C	7.37:g.95705500T>C			OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N	p.N564N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		15	1885	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		564					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1692T>C	CCDS5644.1																																																																																				0.642	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		10	20	0	0	0	0.000978	0	10	20				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			0							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	17	0	0	0	0.004672	0	3	17				
KCNK3	3777	broad.mit.edu	37	2	26950776	26950776	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr2:26950776C>T	ENST00000302909.3	+	2	650	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCATCGGCGCCGCCGCCTTCT	0.637																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(523-525)gcC>gcT		potassium channel, subfamily K, member 3							60.0	54.0	56.0					2																	26950776		2203	4300	6503	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950776C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.525C>T	2.37:g.26950776C>T							p.A175A	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	650	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		175					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.525C>T	CCDS1727.1																																																																																				0.637	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		7	37	0	0	0	0.003080	0	7	37				
ABCC5	10057	broad.mit.edu	37	3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T	rs201003374		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AAACTCCTGCCCTTTATTGTA	0.562																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3208-3210)gGg>gAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							90.0	93.0	92.0					3																	183667559		2059	4185	6244	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667559C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3209G>A	3.37:g.183667559C>T	ENSP00000333926:p.Gly1070Glu					ABCC5_ENST00000265586.6_Intron	p.G1070E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3449	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1070			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3209G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243167	0.10077	.	.	ENSG00000114770	ENST00000334444	D	0.84516	-1.86	5.54	5.54	0.83059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.199311	0.53938	D	0.000047	T	0.65281	0.2676	N	0.01464	-0.85	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.66364	-0.5942	10	0.02654	T	1	-15.2591	19.5024	0.95100	0.0:1.0:0.0:0.0	.	1070	O15440	MRP5_HUMAN	E	1070	ENSP00000333926:G1070E	ENSP00000333926:G1070E	G	-	2	0	ABCC5	185150253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.965000	0.56788	2.607000	0.88179	0.655000	0.94253	GGG		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		11	35	0	0	0	0.001368	0	11	35				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			0							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	16	0	0	0	0.004672	0	3	16				
PCF11	51585	broad.mit.edu	37	11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1777-1779)Tct>Act		PCF11 cleavage and polyadenylation factor subunit							71.0	72.0	71.0					11																	82877716		1780	3938	5718	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877716T>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1777T>A	11.37:g.82877716T>A	ENSP00000298281:p.Ser593Thr						p.S593T	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2229	+			593					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1777T>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966995	0.34754	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46819	1.87;0.88;0.86	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000015	T	0.31167	0.0788	N	0.24115	0.695	0.28001	N	0.935292	P;B	0.39782	0.688;0.231	B;B	0.33750	0.169;0.081	T	0.26155	-1.0111	9	.	.	.	.	12.4108	0.55466	0.0:0.0:0.2563:0.7436	.	593;593	E9PQ01;O94913	.;PCF11_HUMAN	T	593	ENSP00000298281:S593T;ENSP00000434540:S593T;ENSP00000431567:S593T	.	S	+	1	0	PCF11	82555364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.160000	0.42348	2.326000	0.78906	0.533000	0.62120	TCT		0.363	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	72	0	0	0	0.008361	0	24	72				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658255	72658255	+	RNA	SNP	A	A	G	rs2539089	byFrequency	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr7:72658255A>G	ENST00000425256.1	-	0	1656									GTF2I repeat domain containing 2 pseudogene 1																		tcagttttgtaacaagcccgt	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72658255A>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658255A>G								NR_002164.1						0	1656	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	49	0	0	0	0.004672	0	3	49				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	150	0	0	0	0.000602	0	4	150				
TACC2	10579	broad.mit.edu	37	10	123843719	123843719	+	Silent	SNP	A	A	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTAAAGAAGGAAGCAGATCAC	0.592																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1702-1704)ggA>ggT		transforming, acidic coiled-coil containing protein 2							63.0	70.0	68.0					10																	123843719		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843719A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1704A>T	10.37:g.123843719A>T						TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron	p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2044	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	568					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1704A>T	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	27	0	0	0	0.004007	0	13	27				
UBE2O	63893	broad.mit.edu	37	17	74396560	74396560	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:74396560G>A	ENST00000319380.7	-	7	1030	c.966C>T	c.(964-966)agC>agT	p.S322S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	322					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGTGGGGGGCTGACGCTGT	0.607																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(964-966)agC>agT		ubiquitin-conjugating enzyme E2O							64.0	60.0	61.0					17																	74396560		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74396560G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.966C>T	17.37:g.74396560G>A							p.S322S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			7	1030	-			322					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.966C>T	CCDS32742.1																																																																																				0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		7	35	0	0	0	0.006214	0	7	35				
FLT4	2324	broad.mit.edu	37	5	180057599	180057599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr5:180057599C>T	ENST00000261937.6	-	3	434	c.356G>A	c.(355-357)cGc>cAc	p.R119H	FLT4_ENST00000393347.3_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	119	Ig-like C2-type 1.				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)	GCCCTCGATGCGTGCCTTGAT	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.(355-357)cGc>cAc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						175.0	135.0	148.0					5																	180057599		2202	4299	6501	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.chr5:180057599C>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.356G>A	5.37:g.180057599C>T	ENSP00000261937:p.Arg119His					FLT4_ENST00000502649.1_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R119H	p.R119H	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)	3	434	-	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)	119			Ig-like C2-type 1.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.356G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501412	0.44455	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77489	-1.1;-1.1;-1.1	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69611	0.3130	L	0.60455	1.87	0.26761	N	0.969996	P;B;B;B;B	0.41929	0.765;0.103;0.084;0.001;0.008	B;B;B;B;B	0.32677	0.15;0.039;0.01;0.005;0.009	T	0.66803	-0.5831	9	0.46703	T	0.11	.	9.908	0.41388	0.0:0.8718:0.0:0.1282	.	119;119;119;119;119	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	H	119	ENSP00000261937:R119H;ENSP00000377016:R119H;ENSP00000426057:R119H	ENSP00000261937:R119H	R	-	2	0	FLT4	179990205	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.483000	0.45233	2.465000	0.83290	0.456000	0.33151	CGC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	42	0	0	0	0.001855	0	11	42				
PIK3R2	5296	broad.mit.edu	37	19	18277058	18277058	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:18277058G>A	ENST00000593731.1	+	12	2065	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S502N			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	502					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAGAAATGCAGCAAGGAATAC	0.562																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1504-1506)aGc>aAc		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							68.0	68.0	68.0					19																	18277058		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18277058G>A		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1505G>A	19.37:g.18277058G>A	ENSP00000471914:p.Ser502Asn					PIK3R2_ENST00000222254.7_Missense_Mutation_p.S502N	p.S502N			O00459	P85B_HUMAN			12	2065	+			502					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1505G>A	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386221	0.61956	.	.	ENSG00000105647	ENST00000222254	T	0.50001	0.76	4.37	4.37	0.52481	.	0.043016	0.85682	D	0.000000	T	0.65616	0.2708	M	0.83312	2.635	0.80722	D	1	D	0.58268	0.982	P	0.54965	0.765	T	0.72795	-0.4185	10	0.59425	D	0.04	-49.9238	16.7884	0.85580	0.0:0.0:1.0:0.0	.	502	O00459	P85B_HUMAN	N	502	ENSP00000222254:S502N	ENSP00000222254:S502N	S	+	2	0	PIK3R2	18138058	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.682000	0.84083	2.378000	0.81104	0.561000	0.74099	AGC		0.562	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		3	49	0	0	0	0.004672	0	3	49				
KRTAP9-9	81870	broad.mit.edu	37	17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	129	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(430-432)tGc>tAc		keratin associated protein 9-9							155.0	163.0	160.0					17																	39412068		2203	4300	6503	SO:0001583	missense	81870					keratin filament		g.chr17:39412068G>A	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.431G>A	17.37:g.39412068G>A	ENSP00000377576:p.Cys144Tyr						p.C144Y	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	433	+		Breast(137;0.000496)	144					B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	c.431G>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.731834	0.69189	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.05139	3.49	2.97	1.93	0.25924	.	.	.	.	.	T	0.28200	0.0696	M	0.92970	3.365	0.28324	N	0.922107	D	0.69078	0.997	D	0.67900	0.954	T	0.08106	-1.0738	9	0.46703	T	0.11	.	9.9663	0.41727	0.0:0.211:0.789:0.0	.	129	Q9BYP9	KRA99_HUMAN	Y	150;144	ENSP00000377576:C144Y	ENSP00000377576:C144Y	C	+	2	0	KRTAP9-9	36665594	0.991000	0.36638	0.341000	0.25589	0.703000	0.40648	1.764000	0.38471	0.491000	0.27793	0.205000	0.17691	TGC		0.612	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		7	251	0	0	0	0.001984	0	7	251				
NKIRAS2	28511	broad.mit.edu	37	17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612																																						ENST00000307641.5																			0				large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(499-501)aAg>aGg		NFKB inhibitor interacting Ras-like 2							93.0	89.0	90.0					17																	40175835		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175835A>G	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.500A>G	17.37:g.40175835A>G	ENSP00000303580:p.Lys167Arg					NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R	p.K167R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN			4	1121	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	167			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.500A>G	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394810	0.25205	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.92	3.72	0.42706	.	0.043780	0.85682	N	0.000000	T	0.61578	0.2358	N	0.16098	0.37	0.58432	D	0.999999	B;B	0.14438	0.01;0.006	B;B	0.20184	0.013;0.028	T	0.53129	-0.8482	10	0.44086	T	0.13	-11.8755	10.2735	0.43497	0.867:0.0:0.133:0.0	.	111;167	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	R	167;165;167;167;167;111;205	ENSP00000303580:K167R;ENSP00000377462:K165R;ENSP00000377458:K167R;ENSP00000377459:K167R;ENSP00000377463:K167R;ENSP00000312773:K205R	ENSP00000303580:K167R	K	+	2	0	NKIRAS2	37429361	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.324000	0.72896	0.501000	0.28013	0.383000	0.25322	AAG		0.612	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		5	71	0	0	0	0.000602	0	5	71				
ASXL1	171023	broad.mit.edu	37	20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1413					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(4237-4239)Tta>Gta		additional sex combs like 1 (Drosophila)							107.0	112.0	110.0					20																	31024752		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024752T>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4237T>G	20.37:g.31024752T>G	ENSP00000364839:p.Leu1413Val					ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	p.L1413V	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4661	+			1413					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.4237T>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691121	0.30052	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.30981	1.53;1.51	4.42	2.19	0.27852	.	0.098308	0.37393	N	0.002105	T	0.22898	0.0553	L	0.34521	1.04	0.29815	N	0.83133	P;P	0.52316	0.884;0.952	B;B	0.43754	0.43;0.368	T	0.11991	-1.0565	10	0.62326	D	0.03	-0.624	7.9846	0.30205	0.0:0.2478:0.0:0.7522	.	1408;1413	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1413;1413;1413;1334;1408	ENSP00000364839:L1413V;ENSP00000305119:L1408V	ENSP00000305119:L1408V	L	+	1	2	ASXL1	30488413	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.947000	0.29082	0.486000	0.27676	0.533000	0.62120	TTA		0.542	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		3	162	0	0	0	0.000248	0	3	162				
KCNB2	9312	broad.mit.edu	37	8	73849007	73849007	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr8:73849007G>A	ENST00000523207.1	+	3	2005	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	473					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGAGAAGGCCGGAGAGTCCGC	0.527																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1417-1419)Gga>Aga		potassium voltage-gated channel, Shab-related subfamily, member 2							71.0	78.0	76.0					8																	73849007		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849007G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1417G>A	8.37:g.73849007G>A	ENSP00000430846:p.Gly473Arg						p.G473R	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2005	+	Breast(64;0.137)		473					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1417G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767350	0.15983	.	.	ENSG00000182674	ENST00000523207	T	0.25414	1.8	5.74	5.74	0.90152	.	0.524504	0.15755	N	0.246231	T	0.44350	0.1289	L	0.55990	1.75	0.09310	N	0.999994	D	0.63880	0.993	P	0.56700	0.804	T	0.28364	-1.0046	10	0.45353	T	0.12	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	473	Q92953	KCNB2_HUMAN	R	473	ENSP00000430846:G473R	ENSP00000430846:G473R	G	+	1	0	KCNB2	74011561	1.000000	0.71417	0.756000	0.31282	0.160000	0.22226	8.007000	0.88571	2.702000	0.92279	0.655000	0.94253	GGA		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		28	102	0	0	0	0.008361	0	28	102				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(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.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	53	0	0	0	0.000602	0	3	53				
MT-ND5	4540	broad.mit.edu	37	M	13118	13118	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrM:13118T>G	ENST00000361567.2	+	1	782	c.782T>G	c.(781-783)aTc>aGc	p.I261S	MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	261					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTTCTTACTCATCCGCTTCCA	0.532																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(781-783)aTc>aGc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13118T>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.782T>G	M.37:g.13118T>G	ENSP00000354813:p.Ile261Ser						p.I261S			P03915	NU5M_HUMAN			1	782	+			261					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.782T>G																																																																																					0.532	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		4	1	0	0	0	0.000248	0	4	1				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	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_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	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		7	216	0	0	0	0.001984	0	7	216				
TRIP10	9322	broad.mit.edu	37	19	6750305	6750305	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:6750305G>A	ENST00000313244.9	+	13	1433	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TRIP10_ENST00000313285.8_Silent_p.A410A|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Silent_p.A302A|TRIP10_ENST00000596758.1_Silent_p.A410A			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(904-906)gcG>gcA		thyroid hormone receptor interactor 10							54.0	63.0	60.0					19																	6750305		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750305G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1398G>A	19.37:g.6750305G>A						TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.A410A	p.A302A			Q15642	CIP4_HUMAN			12	1552	+			466			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.906G>A																																																																																					0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			30	145	0	0	0	0.004878	0	30	145				
LRP6	4040	broad.mit.edu	37	12	12397551	12397551	+	Silent	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr12:12397551G>T	ENST00000261349.4	-	2	170	c.94C>A	c.(94-96)Cga>Aga	p.R32R	LRP6_ENST00000543091.1_Silent_p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	32	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R32*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAACCAATCGCAAGTCCCGT	0.413																																						ENST00000261349.4																			1	Substitution - Nonsense(1)	p.R32*(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(94-96)Cga>Aga		low density lipoprotein receptor-related protein 6							95.0	85.0	88.0					12																	12397551		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397551G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.94C>A	12.37:g.12397551G>T						LRP6_ENST00000543091.1_Silent_p.R32R	p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	170	-		Prostate(47;0.0865)	32			Beta-propeller 1.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.94C>A	CCDS8647.1																																																																																				0.413	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			11	44	1	0	0.00244969	0.002450	0.00328363	11	44				
BICD2	23299	broad.mit.edu	37	9	95477650	95477650	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr9:95477650G>C	ENST00000375512.3	-	7	2421	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G	BICD2_ENST00000356884.6_Missense_Mutation_p.A785G	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2353-2355)gCc>gGc		bicaudal D homolog 2 (Drosophila)							34.0	32.0	33.0					9																	95477650		2203	4299	6502	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95477650G>C	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2354C>G	9.37:g.95477650G>C	ENSP00000364662:p.Ala785Gly					BICD2_ENST00000375512.3_Missense_Mutation_p.A785G	p.A785G	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			7	2421	-			785			Interacts with RAB6A (By similarity).		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.2354C>G	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152367	0.94645	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.65178	-0.14;-0.14	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.84445	0.0585	10	0.87932	D	0	-25.4584	16.588	0.84732	0.0:0.0:1.0:0.0	.	785;785	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	G	785	ENSP00000349351:A785G;ENSP00000364662:A785G	ENSP00000349351:A785G	A	-	2	0	BICD2	94517471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.593000	0.87608	0.655000	0.94253	GCC		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		13	16	0	0	0	0.001368	0	13	16				
ZNF846	162993	broad.mit.edu	37	19	9868372	9868372	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:9868372G>A	ENST00000397902.2	-	6	1794	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTGTGGAACGAGCAAATGCT	0.433																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1381-1383)Cgt>Tgt		zinc finger protein 846							94.0	104.0	101.0					19																	9868372		2152	4281	6433	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868372G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1381C>T	19.37:g.9868372G>A	ENSP00000380999:p.Arg461Cys					ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR	p.R461C	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1794	-			461					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1381C>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	3.252	-0.153094	0.06585	.	.	ENSG00000196605	ENST00000397902	T	0.07567	3.18	2.14	-4.28	0.03732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08492	0.0211	L	0.28504	0.86	0.09310	N	1	D	0.71674	0.998	P	0.53549	0.729	T	0.10590	-1.0623	8	.	.	.	.	4.978	0.14151	0.4007:0.4065:0.1928:0.0	.	461	Q147U1	ZN846_HUMAN	C	461	ENSP00000380999:R461C	.	R	-	1	0	ZNF846	9729372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.708000	0.00103	-1.059000	0.03193	-0.266000	0.10368	CGT		0.433	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		13	62	0	0	0	0.001855	0	13	62				
KDM6A	7403	broad.mit.edu	37	X	44969495	44969495	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e28+1		lysine (K)-specific demethylase 6A							105.0	97.0	100.0					X																	44969495		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969495G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1G>A	X.37:g.44969495G>A						KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4217	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459215	0.84317	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7744	0.91904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44854439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.379000	0.81126	0.600000	0.82982	.		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	28	33	0	0	0	0.003271	0	28	33				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	111	0	0	0	0.000602	0	4	111				
BPTF	2186	broad.mit.edu	37	17	65942002	65942002	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:65942002C>T	ENST00000321892.4	+	23	7617	c.7556C>T	c.(7555-7557)tCa>tTa	p.S2519L	BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L|BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2519					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGTCACAACCCCAG	0.453																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7555-7557)tCa>tTa		bromodomain PHD finger transcription factor							131.0	120.0	124.0					17																	65942002		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65942002C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7556C>T	17.37:g.65942002C>T	ENSP00000315454:p.Ser2519Leu					BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L|BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L	p.S2519L			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7617	+	all_cancers(12;6e-11)		2519					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7556C>T		.	.	.	.	.	.	.	.	.	.	C	16.80	3.224217	0.58668	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.63096	-0.02;0.1;0.02	6.16	6.16	0.99307	.	.	.	.	.	T	0.53302	0.1788	L	0.35723	1.085	0.09310	N	0.999992	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.11329	0.002;0.006;0.006	T	0.43798	-0.9369	9	0.52906	T	0.07	-3.2299	11.1404	0.48400	0.0:0.8609:0.0:0.1391	.	197;2393;2519	B4DJV8;Q12830-2;Q12830-4	.;.;.	L	2393;2519;2519;190	ENSP00000307208:S2393L;ENSP00000334351:S2519L;ENSP00000315454:S2519L	ENSP00000307208:S2393L	S	+	2	0	BPTF	63372464	0.054000	0.20591	0.997000	0.53966	0.957000	0.61999	2.736000	0.47385	2.937000	0.99478	0.650000	0.86243	TCA		0.453	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	88	0	0	0	0.001168	0	5	88				
ADAM18	8749	broad.mit.edu	37	8	39525629	39525629	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr8:39525629G>T	ENST00000265707.5	+	14	1484	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGC	0.408																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1438-1440)gGc>gTc		ADAM metallopeptidase domain 18							235.0	210.0	219.0					8																	39525629		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525629G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1439G>T	8.37:g.39525629G>T	ENSP00000265707:p.Gly480Val					ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V	p.G480V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1484	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	480			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1439G>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630676	0.67015	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.39787	1.06;1.06	5.5	5.5	0.81552	ADAM, cysteine-rich (2);	0.000000	0.48767	D	0.000178	T	0.75852	0.3906	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.83267	-0.0045	10	0.87932	D	0	.	14.7732	0.69696	0.0:0.0:1.0:0.0	.	456;480	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	V	480;456;412	ENSP00000265707:G480V;ENSP00000369195:G456V	ENSP00000265707:G480V	G	+	2	0	ADAM18	39644786	1.000000	0.71417	0.936000	0.37596	0.987000	0.75469	5.199000	0.65152	2.868000	0.98415	0.555000	0.69702	GGC		0.408	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		52	203	1	0	2.40265e-35	0.003610	3.44016e-35	52	203				
EMILIN3	90187	broad.mit.edu	37	20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T	rs544595291		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17865	0.0		0.0	False		,,,				2504	0.0					ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(928-930)cGa>cAa		elastin microfibril interfacer 3							26.0	27.0	27.0					20																	39991280		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991280C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.929G>A	20.37:g.39991280C>T	ENSP00000332806:p.Arg310Gln						p.R310Q	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1121	-		Myeloproliferative disorder(115;0.00425)	310					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.929G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121232	0.20877	.	.	ENSG00000183798	ENST00000332312	T	0.13901	2.55	5.3	0.552	0.17230	.	0.760060	0.12107	N	0.498885	T	0.10895	0.0266	L	0.51422	1.61	0.09310	N	1	B	0.24043	0.096	B	0.11329	0.006	T	0.30119	-0.9989	9	.	.	.	-2.4682	5.629	0.17499	0.1326:0.4767:0.0:0.3907	.	310	Q9NT22	EMIL3_HUMAN	Q	310	ENSP00000332806:R310Q	.	R	-	2	0	EMILIN3	39424694	0.000000	0.05858	0.288000	0.24862	0.969000	0.65631	-2.079000	0.01369	0.237000	0.21200	0.462000	0.41574	CGA		0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		3	19	0	0	0	0.000248	0	3	19				
SCN9A	6335	broad.mit.edu	37	2	167089856	167089856	+	Silent	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr2:167089856T>A	ENST00000409435.1	-	20	3917	c.3918A>T	c.(3916-3918)ggA>ggT	p.G1306G	SCN9A_ENST00000303354.6_Silent_p.G1307G|SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000375387.4_Silent_p.G1307G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1306					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)	TTACCCTCATTCCTTCAAATC	0.343																																						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.(3919-3921)ggA>ggT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						37.0	36.0	36.0					2																	167089856		1904	4183	6087	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167089856T>A	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.3918A>T	2.37:g.167089856T>A						AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000409435.1_Silent_p.G1306G|SCN9A_ENST00000303354.6_Silent_p.G1307G	p.G1307G			Q15858	SCN9A_HUMAN			21	4261	-			1306					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.3921A>T	CCDS46441.1																																																																																				0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		4	8	0	0	0	0.000248	0	4	8				
ADAM18	8749	broad.mit.edu	37	8	39525630	39525630	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr8:39525630C>T	ENST00000265707.5	+	14	1485	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGAATGGCCGTTTGTGCA	0.403																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1438-1440)ggC>ggT		ADAM metallopeptidase domain 18							235.0	210.0	219.0					8																	39525630		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525630C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1440C>T	8.37:g.39525630C>T						ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G	p.G480G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1485	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	480			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.1440C>T	CCDS6113.1																																																																																				0.403	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		55	201	0	0	0	0.003610	0	55	201				
GPKOW	27238	broad.mit.edu	37	X	48973489	48973489	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrX:48973489G>A	ENST00000156109.5	-	6	886	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	270						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACCATGGCCCGAACATTGTCA	0.547																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(808-810)Cgg>Tgg		G patch domain and KOW motifs							105.0	80.0	89.0					X																	48973489		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973489G>A	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.808C>T	X.37:g.48973489G>A	ENSP00000156109:p.Arg270Trp						p.R270W	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			6	886	-			270					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.808C>T	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849656	0.71603	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	4.37	0.52481	KOW (1);	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	M	0.65975	2.015	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.77289	-0.2643	9	0.87932	D	0	-2.7937	11.4217	0.49985	0.0:0.0:0.673:0.327	.	270	Q92917	GPKOW_HUMAN	W	270	.	ENSP00000156109:R270W	R	-	1	2	GPKOW	48860433	0.985000	0.35326	0.562000	0.28370	0.985000	0.73830	2.346000	0.44027	1.089000	0.41292	0.597000	0.82753	CGG		0.547	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		16	45	0	0	0	0.008871	0	16	45				
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr7:100349878C>T	ENST00000348028.3	+	0	2315				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_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)		p.P717L(2)		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)			CCAGAAAAACCCACCATCCCC	0.507																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P717L(2)	lung(2)	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)							164.0	184.0	178.0					7																	100349878		1828	4078	5906			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349878C>T						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2298	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	9.939	1.216877	0.22373	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.75	1.86	0.25419	.	.	.	.	.	T	0.52273	0.1724	L	0.52573	1.65	0.20074	N	0.999932	B;B	0.21606	0.058;0.035	B;B	0.16289	0.015;0.007	T	0.49331	-0.8951	9	0.87932	D	0	.	6.3325	0.21279	0.1829:0.7123:0.0:0.1048	.	717;717	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	717	ENSP00000445943:P717L;ENSP00000445091:P717L;ENSP00000444427:P717L	ENSP00000423579:P717L	P	+	2	0	ZAN	100187814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.225000	0.02956	0.315000	0.23110	0.555000	0.69702	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	71	0	0	0	0.004672	0	3	71				
EPG5	57724	broad.mit.edu	37	18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr18:43497668T>C	ENST00000282041.5	-	17	3249	c.3215A>G	c.(3214-3216)cAg>cGg	p.Q1072R	EPG5_ENST00000585906.1_5'Flank	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGGTAATACTGGCAAGGGTA	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3214-3216)cAg>cGg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							172.0	159.0	163.0					18																	43497668		1880	4118	5998	SO:0001583	missense	57724				autophagy			g.chr18:43497668T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3215A>G	18.37:g.43497668T>C	ENSP00000282041:p.Gln1072Arg						p.Q1072R	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			17	3249	-			1072					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3215A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	6.303	0.424076	0.11928	.	.	ENSG00000152223	ENST00000282041	T	0.09911	2.93	5.4	5.4	0.78164	.	1.079280	0.06987	N	0.820984	T	0.17577	0.0422	L	0.59436	1.845	0.41689	D	0.989331	B;B	0.28082	0.2;0.2	B;B	0.26416	0.069;0.069	T	0.06752	-1.0809	10	0.48119	T	0.1	-15.201	15.712	0.77635	0.0:0.0:0.0:1.0	.	1072;1072	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	1072	ENSP00000282041:Q1072R	ENSP00000282041:Q1072R	Q	-	2	0	EPG5	41751666	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	3.489000	0.53237	2.178000	0.69098	0.533000	0.62120	CAG		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		45	126	0	0	0	0.003610	0	45	126				
SPEN	23013	broad.mit.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10906-10908)gfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265833_16265834delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10906_10907delGA	1.37:g.16265835_16265836delGA	ENSP00000364912:p.Glu3636fs						p.E3636fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	15	11110_11111	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3636			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.10906_10907delGA	CCDS164.1																																																																																				0.584	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		80	347						80	347	---	---	---	---
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																						ENST00000508616.1																			0																																																			0							g.chr3:98031434delA																													3.37:g.98031434delA						OR5H8P_ENST00000394191.2_RNA								0	149	+									RNA	DEL	ENST00000508616.1	37																																																																																						0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1			2	4						2	4	---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91739301	91739303	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr14:91739301_91739303delCAG	ENST00000389857.6	-	30	5839_5841	c.5753_5755delCTG	c.(5752-5757)gctggc>ggc	p.A1918del	CCDC88C_ENST00000331194.7_In_Frame_Del_p.A442del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1918					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCCACTGCCAGCAGCAGCAGC	0.69																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(5752-5757)ggc>g		coiled-coil domain containing 88C				15,2677		4,7,1335						1.9	0.0			4	64,6090		9,46,3022	no	coding	CCDC88C	NM_001080414.3		13,53,4357	A1A1,A1R,RR		1.04,0.5572,0.8931				79,8767				SO:0001651	inframe_deletion	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91739301_91739303delCAG		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5753_5755delCTG	14.37:g.91739310_91739312delCAG	ENSP00000374507:p.Ala1918del					CCDC88C_ENST00000331194.7_In_Frame_Del_p.AG442del	p.AG1918del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			30	5839_5841	-		all_cancers(154;0.0468)	1918					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	In_Frame_Del	DEL	ENST00000389857.6	37	c.5753_5755delCTG	CCDS45151.1																																																																																				0.690	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		2	4						2	4	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49700013	49700013	+	Frame_Shift_Del	DEL	G	G	-	rs376922318		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:49700013delG	ENST00000252826.5	+	17	2653	c.2527delG	c.(2527-2529)gggfs	p.G844fs	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	844			G -> D (in PFHB1B; right bundle-branch block; dbSNP:rs200038418). {ECO:0000269|PubMed:20562447, ECO:0000269|PubMed:21887725}.		calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTCGCCAGCGGGGGCCCCGG	0.697																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2527-2529)ggfs		transient receptor potential cation channel, subfamily M, member 4																																				SO:0001589	frameshift_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49700013delG	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2527delG	19.37:g.49700013delG	ENSP00000252826:p.Gly844fs					TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs|TRPM4_ENST00000427978.2_Intron	p.G844fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	17	2653	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	844					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Frame_Shift_Del	DEL	ENST00000252826.5	37	c.2527delG	CCDS33073.1																																																																																				0.697	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			3	4						3	4	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46913428	46913428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr21:46913428delA	ENST00000359759.4	+	25	3557	c.3536delA	c.(3535-3537)gaafs	p.E1179fs	COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1179	Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGAAGGGTGAACCGGGCAGC	0.692																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3535-3537)gafs		collagen, type XVIII, alpha 1							16.0	20.0	19.0					21																	46913428		2027	4122	6149	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46913428delA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3536delA	21.37:g.46913428delA	ENSP00000352798:p.Glu1179fs					COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs	p.E1179fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	25	3557	+			1179			Triple-helical region 5 (COL5).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.3536delA																																																																																					0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			2	4						2	4	---	---	---	---
PARVG	64098	broad.mit.edu	37	22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-	rs550686401		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr22:44581708delC	ENST00000444313.3	+	4	584	c.100delC	c.(100-102)ccafs	p.P35fs	PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	35					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(100-102)cafs		parvin, gamma							73.0	59.0	63.0					22																	44581708		2203	4300	6503	SO:0001589	frameshift_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44581708delC	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.100delC	22.37:g.44581708delC	ENSP00000391583:p.Pro35fs					PARVG_ENST00000444313.2_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs	p.P35fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			4	524	+		Ovarian(80;0.024)|all_neural(38;0.0299)	35					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Frame_Shift_Del	DEL	ENST00000444313.3	37	c.100delC	CCDS14057.1																																																																																				0.587	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		10	56						10	56	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10906-10908)gfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265833_16265834delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10906_10907delGA	1.37:g.16265835_16265836delGA	ENSP00000364912:p.Glu3636fs						p.E3636fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	15	11110_11111	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3636			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.10906_10907delGA	CCDS164.1																																																																																				0.584	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		80	347						80	347	---	---	---	---
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC	rs370190435|rs536582109	byFrequency	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419					ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(541-543)agc>aGGCgc		hepatoma derived growth factor-like 1																																				SO:0001652	inframe_insertion	154150							g.chr6:22570346_22570347insGGC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup					HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR	p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN			1	552_553	+	Ovarian(93;0.163)		181			Ala-rich.|Glu-rich.		Q96MJ6	In_Frame_Ins	INS	ENST00000230012.3	37	c.542_543insGGC	CCDS34347.1																																																																																				0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		3	6						3	6	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr10:7212995_7212997delCTC	ENST00000361972.4	-	20	2527_2529	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	813					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2437-2439)del		Scm-like with four mbt domains 2																																				SO:0001651	inframe_deletion	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7212995_7212997delCTC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2437_2439delGAG	10.37:g.7213004_7213006delCTC	ENSP00000355109:p.Glu813del					SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			20	2527_2529	-			813					A7MD09|Q9HCF5	In_Frame_Del	DEL	ENST00000361972.4	37	c.2437_2439delGAG	CCDS31138.1																																																																																				0.596	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	273						7	273	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr12:121125148_121125150delCTG	ENST00000228506.3	+	1	477_479	c.49_51delCTG	c.(49-51)ctgdel	p.L22del	MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	22					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gctcctgcgactgctgctgctgc	0.783																																						ENST00000228506.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(49-51)del		malectin				47,1473		16,15,729						-1.8	1.0			2	80,3128		23,34,1547	no	coding	MLEC	NM_014730.2		39,49,2276	A1A1,A1R,RR		2.4938,3.0921,2.6861				127,4601				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121125148_121125150delCTG	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.49_51delCTG	12.37:g.121125157_121125159delCTG	ENSP00000228506:p.Leu22del					MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			1	477_479	+			22						In_Frame_Del	DEL	ENST00000228506.3	37	c.49_51delCTG	CCDS9206.1																																																																																				0.783	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		2	4						2	4	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714														4658	0.930112	0.9297	0.9769	5008	,	,		7189	0.872		0.9712	False		,,,				2504	0.9151					ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(367-375)caa>ca		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493762_77493767delTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.369_374delGCAGCA	14.37:g.77493768_77493773delTGCTGC	ENSP00000238647:p.Gln125_Gln126del						p.QQQ123del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1267_1272	-			123			Poly-Gln.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.369_374delGCAGCA	CCDS9854.1																																																																																				0.714	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		6	1						6	1	---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91739301	91739303	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr14:91739301_91739303delCAG	ENST00000389857.6	-	30	5839_5841	c.5753_5755delCTG	c.(5752-5757)gctggc>ggc	p.A1918del	CCDC88C_ENST00000331194.7_In_Frame_Del_p.A442del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1918					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCCACTGCCAGCAGCAGCAGC	0.69																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(5752-5757)ggc>g		coiled-coil domain containing 88C				15,2677		4,7,1335						1.9	0.0			4	64,6090		9,46,3022	no	coding	CCDC88C	NM_001080414.3		13,53,4357	A1A1,A1R,RR		1.04,0.5572,0.8931				79,8767				SO:0001651	inframe_deletion	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91739301_91739303delCAG		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5753_5755delCTG	14.37:g.91739310_91739312delCAG	ENSP00000374507:p.Ala1918del					CCDC88C_ENST00000331194.7_In_Frame_Del_p.AG442del	p.AG1918del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			30	5839_5841	-		all_cancers(154;0.0468)	1918					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	In_Frame_Del	DEL	ENST00000389857.6	37	c.5753_5755delCTG	CCDS45151.1																																																																																				0.690	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		2	4						2	4	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	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					ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|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		9	300						9	300	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80173535	80173535	+	5'Flank	DEL	C	C	-	rs61581716	byFrequency	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:80173535delC	ENST00000389641.4	-	0	0				CCDC57_ENST00000392347.1_5'Flank|CCDC57_ENST00000392343.3_5'Flank|RP13-516M14.2_ENST00000581303.1_RNA			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			tccttccctgccccccacact	0.701													|||unknown(LONG_INSERTION)	2565	0.512181	0.5688	0.5375	5008	,	,		10887	0.5258		0.4235	False		,,,				2504	0.4949					ENST00000581303.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:80173535delC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396		17.37:g.80173535delC	Exception_encountered													0	1371	+								A6NP51|A8MQC7|Q8IWG2|Q8TER3	RNA	DEL	ENST00000389641.4	37																																																																																						0.701	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		4	8						4	8	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49700013	49700013	+	Frame_Shift_Del	DEL	G	G	-	rs376922318		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:49700013delG	ENST00000252826.5	+	17	2653	c.2527delG	c.(2527-2529)gggfs	p.G844fs	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	844			G -> D (in PFHB1B; right bundle-branch block; dbSNP:rs200038418). {ECO:0000269|PubMed:20562447, ECO:0000269|PubMed:21887725}.		calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTCGCCAGCGGGGGCCCCGG	0.697																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2527-2529)ggfs		transient receptor potential cation channel, subfamily M, member 4																																				SO:0001589	frameshift_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49700013delG	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2527delG	19.37:g.49700013delG	ENSP00000252826:p.Gly844fs					TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs	p.G844fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	17	2653	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	844					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Frame_Shift_Del	DEL	ENST00000252826.5	37	c.2527delG	CCDS33073.1																																																																																				0.697	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			3	4						3	4	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46913428	46913428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr21:46913428delA	ENST00000359759.4	+	25	3557	c.3536delA	c.(3535-3537)gaafs	p.E1179fs	COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1179	Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGAAGGGTGAACCGGGCAGC	0.692																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3535-3537)gafs		collagen, type XVIII, alpha 1							16.0	20.0	19.0					21																	46913428		2027	4122	6149	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46913428delA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3536delA	21.37:g.46913428delA	ENSP00000352798:p.Glu1179fs					COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs	p.E1179fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	25	3557	+			1179			Triple-helical region 5 (COL5).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.3536delA																																																																																					0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			2	4						2	4	---	---	---	---
PARVG	64098	broad.mit.edu	37	22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-	rs550686401		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr22:44581708delC	ENST00000444313.3	+	4	584	c.100delC	c.(100-102)ccafs	p.P35fs	PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	35					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(100-102)cafs		parvin, gamma							73.0	59.0	63.0					22																	44581708		2203	4300	6503	SO:0001589	frameshift_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44581708delC	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.100delC	22.37:g.44581708delC	ENSP00000391583:p.Pro35fs					PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000444313.2_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs	p.P35fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			4	524	+		Ovarian(80;0.024)|all_neural(38;0.0299)	35					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Frame_Shift_Del	DEL	ENST00000444313.3	37	c.100delC	CCDS14057.1																																																																																				0.587	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		10	56						10	56	---	---	---	---
