#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
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	86	0	0	0	1	0	6	86				
RBM19	9904	broad.mit.edu	37	12	114296676	114296676	+	Missense_Mutation	SNP	G	G	A	rs138978572		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:114296676G>A	ENST00000545145.2	-	22	2662	c.2584C>T	c.(2584-2586)Cgc>Tgc	p.R862C	RBM19_ENST00000392561.3_Missense_Mutation_p.R862C|RBM19_ENST00000261741.5_Missense_Mutation_p.R862C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	862	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTTGGCAGGCGGACCGTCTTC	0.542																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2584-2586)Cgc>Tgc		RNA binding motif protein 19		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	105.0	107.0		2584,2584,2584	5.2	1.0	12	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	862/961,862/961,862/961	114296676	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114296676G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2584C>T	12.37:g.114296676G>A	ENSP00000442053:p.Arg862Cys					RBM19_ENST00000261741.5_Missense_Mutation_p.R862C|RBM19_ENST00000392561.3_Missense_Mutation_p.R862C	p.R862C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			22	2662	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		862			RRM 6.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2584C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827047	0.90955	2.27E-4	0.0	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.18810	2.19;2.19;2.19	5.2	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.113936	0.64402	D	0.000009	T	0.59280	0.2182	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70528	-0.4847	10	0.56958	D	0.05	-16.6674	18.7652	0.91869	0.0:0.0:1.0:0.0	.	862	Q9Y4C8	RBM19_HUMAN	C	862	ENSP00000442053:R862C;ENSP00000376344:R862C;ENSP00000261741:R862C	ENSP00000261741:R862C	R	-	1	0	RBM19	112781059	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.209000	0.95087	2.412000	0.81896	0.655000	0.94253	CGC		0.542	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		9	39	0	0	0	1	0	9	39				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	42	0	0	0	1	0	3	42				
GATAD2B	57459	broad.mit.edu	37	1	153790536	153790536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:153790536G>A	ENST00000368655.4	-	5	952	c.709C>T	c.(709-711)Caa>Taa	p.Q237*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	237					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCAAATTTTGAGGTTCAACC	0.493																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(709-711)Caa>Taa		GATA zinc finger domain containing 2B							149.0	154.0	153.0					1																	153790536		2203	4300	6503	SO:0001587	stop_gained	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153790536G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.709C>T	1.37:g.153790536G>A	ENSP00000357644:p.Gln237*						p.Q237*	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	952	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		237					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Nonsense_Mutation	SNP	ENST00000368655.4	37	c.709C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	38	6.694766	0.97768	.	.	ENSG00000143614	ENST00000368655	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.2028	18.1254	0.89584	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	ENSP00000357644:Q237X	Q	-	1	0	GATAD2B	152057160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.276000	0.89894	2.585000	0.87301	0.407000	0.27541	CAA		0.493	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		45	149	0	0	0	1	0	45	149				
MED12L	116931	broad.mit.edu	37	3	151075043	151075043	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:151075043A>C	ENST00000474524.1	+	18	2637	c.2599A>C	c.(2599-2601)Aaa>Caa	p.K867Q	MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	867						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGCTCCTAAAATCCTCCAG	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2599-2601)Aaa>Caa		mediator complex subunit 12-like							95.0	84.0	88.0					3																	151075043		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151075043A>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2599A>C	3.37:g.151075043A>C	ENSP00000417235:p.Lys867Gln					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q	p.K867Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		18	2637	+			867					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2599A>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936818	0.92458	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	D;D	0.82255	-1.59;-1.59	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88503	0.6454	L	0.52759	1.655	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.979;0.991;0.987	D	0.89687	0.3895	10	0.87932	D	0	-26.9706	15.2053	0.73175	1.0:0.0:0.0:0.0	.	727;867;867	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Q	867;727	ENSP00000417235:K867Q;ENSP00000273432:K727Q	ENSP00000273432:K727Q	K	+	1	0	MED12L	152557733	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	8.291000	0.89927	2.113000	0.64589	0.533000	0.62120	AAA		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		14	71	0	0	0	1	0	14	71				
GTPBP4	23560	broad.mit.edu	37	10	1044996	1044996	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:1044996G>A	ENST00000360803.4	+	6	697	c.615G>A	c.(613-615)ctG>ctA	p.L205L	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000538293.1_Silent_p.L89L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	205	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CCAAGTCTCTGTTTGTTGGGC	0.413																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(613-615)ctG>ctA		GTP binding protein 4							229.0	181.0	197.0					10																	1044996		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1044996G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.615G>A	10.37:g.1044996G>A						GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000491635.1_3'UTR	p.L205L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	6	697	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	205					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.615G>A	CCDS31132.1																																																																																				0.413	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		11	26	0	0	0	1	0	11	26				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	40	0	0	0	1	0	3	40				
CCDC87	55231	broad.mit.edu	37	11	66359398	66359398	+	Missense_Mutation	SNP	C	C	G	rs142496256		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:66359398C>G	ENST00000333861.3	-	1	1156	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	363					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCAACTTCATCTTCTTTATCA	0.597																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1087-1089)aaG>aaC		coiled-coil domain containing 87							51.0	55.0	54.0					11																	66359398		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359398C>G	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1089G>C	11.37:g.66359398C>G	ENSP00000328487:p.Lys363Asn						p.K363N	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1156	-			363					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1089G>C	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.840087	0.00573	.	.	ENSG00000182791	ENST00000333861	T	0.29917	1.55	5.03	-2.33	0.06724	.	1.397050	0.04801	N	0.433398	T	0.06962	0.0177	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18808	-1.0325	10	0.15066	T	0.55	.	3.6258	0.08112	0.0805:0.3663:0.2453:0.3079	.	363	Q9NVE4	CCD87_HUMAN	N	363	ENSP00000328487:K363N	ENSP00000328487:K363N	K	-	3	2	CCDC87	66115974	0.000000	0.05858	0.022000	0.16811	0.115000	0.19883	-0.276000	0.08514	-0.611000	0.05709	-0.256000	0.11100	AAG		0.597	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		7	33	0	0	0	1	0	7	33				
PSG7	5676	broad.mit.edu	37	19	43429943	43429943	+	RNA	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr19:43429943C>A	ENST00000406070.2	-	0	1321				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CTGACTGTCACGGATTTGGAG	0.463																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							202.0	204.0	204.0					19																	43429943		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43429943C>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43429943C>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	1314	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		54	145	1	0	7.89702e-26	1	9.63051e-26	54	145				
ZNF182	7569	broad.mit.edu	37	X	47836948	47836948	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:47836948C>T	ENST00000396965.1	-	7	888	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATTTATTTTCTGCAGAACTT	0.333																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(538-540)Gaa>Aaa		zinc finger protein 182							61.0	56.0	57.0					X																	47836948		2203	4299	6502	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836948C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.538G>A	X.37:g.47836948C>T	ENSP00000380165:p.Glu180Lys					ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K	p.E180K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	888	-			180					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.538G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299769	0.05532	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06449	3.3;3.31;3.31	3.87	3.87	0.44632	.	.	.	.	.	T	0.03305	0.0096	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.19583	0.009;0.037;0.037	B;B;B	0.19946	0.027;0.021;0.021	T	0.36016	-0.9765	9	0.42905	T	0.14	.	8.6145	0.33822	0.0:0.77:0.23:0.0	.	160;161;180	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	161;180;180	ENSP00000366142:E161K;ENSP00000380165:E180K;ENSP00000306351:E180K	ENSP00000306351:E180K	E	-	1	0	ZNF182	47721892	0.108000	0.22018	0.516000	0.27786	0.374000	0.29953	1.432000	0.34936	2.177000	0.69029	0.594000	0.82650	GAA		0.333	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		15	15	0	0	0	1	0	15	15				
CFAP97	57587	broad.mit.edu	37	4	186111652	186111652	+	Silent	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:186111652C>T	ENST00000458385.2	-	2	818	c.699G>A	c.(697-699)caG>caA	p.Q233Q	KIAA1430_ENST00000296775.6_Silent_p.Q233Q|KIAA1430_ENST00000514798.1_Silent_p.Q233Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		233	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TACTTGAAGGCTGTGTTTCTG	0.428																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(697-699)caG>caA		KIAA1430							155.0	144.0	148.0					4																	186111652		1924	4144	6068	SO:0001819	synonymous_variant	57587							g.chr4:186111652C>T																												ENST00000458385.2:c.699G>A	4.37:g.186111652C>T						KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q	p.Q233Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	818	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	233			Ser-rich.		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	c.699G>A	CCDS47168.1																																																																																				0.428	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			4	39	0	0	0	1	0	4	39				
B4GALT2	8704	broad.mit.edu	37	1	44446882	44446882	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:44446882T>A	ENST00000356836.6	+	2	840	c.50T>A	c.(49-51)cTc>cAc	p.L17H	B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	17					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGGCTGTGCTCCTTCTCTGC	0.682																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(49-51)cTc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						88.0	69.0	76.0					1																	44446882		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44446882T>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.50T>A	1.37:g.44446882T>A	ENSP00000349293:p.Leu17His					B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H|B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR	p.L17H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	840	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	17					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.50T>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	T	32	5.123854	0.94429	.	.	ENSG00000117411	ENST00000372324;ENST00000356836;ENST00000309519	T;T;T	0.52754	0.71;0.71;0.65	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000007	T	0.57330	0.2046	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.85130	0.997;0.819	T	0.62329	-0.6877	10	0.87932	D	0	-26.7008	14.6211	0.68584	0.0:0.0:0.0:1.0	.	46;17	B4DE14;O60909	.;B4GT2_HUMAN	H	17;17;46	ENSP00000361399:L17H;ENSP00000349293:L17H;ENSP00000310696:L46H	ENSP00000310696:L46H	L	+	2	0	B4GALT2	44219469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.306000	0.78905	1.843000	0.53566	0.533000	0.62120	CTC		0.682	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		15	39	0	0	0	1	0	15	39				
TBXAS1	6916	broad.mit.edu	37	7	139572059	139572059	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr7:139572059C>A	ENST00000455353.1	+	2	252	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L40M|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	39					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ATTCTCAAGACTGGAGAAGTT	0.443																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(118-120)Ctg>Atg		thromboxane A synthase 1 (platelet)							166.0	146.0	153.0					7																	139572059		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139572059C>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.115C>A	7.37:g.139572059C>A	ENSP00000391567:p.Leu39Met					TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000455353.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M	p.L40M	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			6	656	+	Melanoma(164;0.0142)		39					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.118C>A		.	.	.	.	.	.	.	.	.	.	C	17.13	3.311593	0.60414	.	.	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25	4.85	3.03	0.35002	.	0.000000	0.64402	D	0.000004	T	0.13030	0.0316	N	0.19112	0.55	0.41973	D	0.990764	P;D;P;P;P	0.76494	0.945;0.999;0.869;0.858;0.858	P;D;P;P;P	0.68192	0.709;0.956;0.461;0.493;0.493	T	0.04041	-1.0982	10	0.72032	D	0.01	.	8.9005	0.35493	0.0:0.8201:0.0:0.1799	.	40;40;40;40;39	B7Z6W1;E7EP08;E7EMU9;Q53F23;P24557	.;.;.;.;THAS_HUMAN	M	40;39;39;40;40;40;39;39;39;39;40	ENSP00000263552:L40M;ENSP00000388612:L39M;ENSP00000338087:L39M;ENSP00000389414:L40M;ENSP00000392361:L40M;ENSP00000392702:L40M;ENSP00000402536:L39M;ENSP00000391567:L39M;ENSP00000411274:L39M;ENSP00000411326:L39M;ENSP00000444626:L40M	ENSP00000263552:L40M	L	+	1	2	TBXAS1	139218528	0.975000	0.34042	0.963000	0.40424	0.955000	0.61496	2.026000	0.41069	0.568000	0.29311	0.557000	0.71058	CTG		0.443	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			39	161	1	0	4.44401e-20	1	5.29049e-20	39	161				
TIAM1	7074	broad.mit.edu	37	21	32589885	32589885	+	Missense_Mutation	SNP	C	C	T	rs531274411		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr21:32589885C>T	ENST00000286827.3	-	10	2597	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.R709Q|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	709					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATGCTTGGCCGTCCCTGCTT	0.512																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2125-2127)cGg>cAg		T-cell lymphoma invasion and metastasis 1							191.0	169.0	176.0					21																	32589885		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589885C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2126G>A	21.37:g.32589885C>T	ENSP00000286827:p.Arg709Gln					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R709Q	p.R709Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			10	2597	-			709					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2126G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463503	0.63513	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.30981	1.51;1.51	5.41	5.41	0.78517	.	0.137445	0.46442	D	0.000292	T	0.39989	0.1099	L	0.46157	1.445	0.53005	D	0.999963	D;D;B;D	0.58970	0.976;0.984;0.052;0.984	P;P;B;P	0.49140	0.601;0.493;0.01;0.493	T	0.21999	-1.0229	10	0.72032	D	0.01	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	709;709;550;709	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	Q	709;550;709	ENSP00000286827:R709Q;ENSP00000441570:R709Q	ENSP00000286827:R709Q	R	-	2	0	TIAM1	31511756	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.702000	0.68332	2.803000	0.96430	0.655000	0.94253	CGG		0.512	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		17	107	0	0	0	1	0	17	107				
DCHS1	8642	broad.mit.edu	37	11	6662544	6662544	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:6662544C>T	ENST00000299441.3	-	2	712	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTACGGACGACCCCACTG	0.622																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(301-303)Gtc>Atc		dachsous cadherin-related 1							67.0	58.0	61.0					11																	6662544		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662544C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.301G>A	11.37:g.6662544C>T	ENSP00000299441:p.Val101Ile						p.V101I	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	712	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	101			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.301G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	3.292	-0.144722	0.06627	.	.	ENSG00000166341	ENST00000299441	T	0.31247	1.5	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.42053	D	0.000769	T	0.11707	0.0285	N	0.00869	-1.13	0.33880	D	0.636014	P	0.45957	0.869	P	0.49829	0.623	T	0.33979	-0.9847	10	0.02654	T	1	.	7.9456	0.29985	0.0:0.8243:0.0:0.1757	.	101	Q96JQ0	PCD16_HUMAN	I	101	ENSP00000299441:V101I	ENSP00000299441:V101I	V	-	1	0	DCHS1	6619120	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	3.211000	0.51137	2.536000	0.85505	0.643000	0.83706	GTC		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	40	0	0	0	1	0	8	40				
STXBP5L	9515	broad.mit.edu	37	3	120998787	120998787	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:120998787C>A	ENST00000273666.6	+	19	2365	c.2094C>A	c.(2092-2094)aaC>aaA	p.N698K	STXBP5L_ENST00000497029.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.N698K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	698					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTCGAAAAAACAAACAGTTCA	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2092-2094)aaC>aaA		syntaxin binding protein 5-like							89.0	81.0	84.0					3																	120998787		1871	4110	5981	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120998787C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2094C>A	3.37:g.120998787C>A	ENSP00000273666:p.Asn698Lys					STXBP5L_ENST00000472879.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N698K	p.N698K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	19	2365	+			698					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2094C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.189892	0.21954	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.35421	1.99;2.0;1.8;1.31;1.79;2.0	5.45	3.59	0.41128	.	0.067218	0.56097	D	0.000032	T	0.26448	0.0646	L	0.33485	1.01	0.49389	D	0.999781	B;B	0.10296	0.002;0.003	B;B	0.08055	0.003;0.003	T	0.03910	-1.0993	10	0.37606	T	0.19	-16.8575	10.2137	0.43156	0.0:0.8302:0.0:0.1698	.	698;698	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	K	698	ENSP00000273666:N698K;ENSP00000420019:N698K;ENSP00000419627:N698K;ENSP00000420287:N698K;ENSP00000420666:N698K;ENSP00000420167:N698K	ENSP00000273666:N698K	N	+	3	2	STXBP5L	122481477	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.203000	0.51075	0.598000	0.29829	0.467000	0.42956	AAC		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			15	56	1	0	2.31682e-05	1	2.4647e-05	15	56				
DNM1P47	100216544	broad.mit.edu	37	15	102293008	102293008	+	RNA	SNP	A	A	G	rs373885613		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr15:102293008A>G	ENST00000561463.1	+	0	1054									DNM1 pseudogene 47									p.K171E(1)									GCGTGGGAACAAGAAGACACT	0.582																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.K171E(1)	kidney(1)																																																0							g.chr15:102293008A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293008A>G														0	1054	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	9	0	0	0	1	0	3	9				
GRIN2B	2904	broad.mit.edu	37	12	13717134	13717134	+	Missense_Mutation	SNP	G	G	A	rs202109019		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:13717134G>A	ENST00000609686.1	-	13	3247	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1013					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGGACTGGGTGGTGAAGGG	0.577																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3037-3039)aCc>aTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						116.0	90.0	99.0					12																	13717134		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717134G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3038C>T	12.37:g.13717134G>A	ENSP00000477455:p.Thr1013Ile						p.T1013I	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3247	-			1013					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3038C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708117	0.48412	.	.	ENSG00000150086	ENST00000279593	T	0.12147	2.71	5.5	5.5	0.81552	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.108992	0.64402	D	0.000006	T	0.20659	0.0497	L	0.50333	1.59	0.58432	D	0.999999	B	0.29590	0.25	B	0.35813	0.211	T	0.01961	-1.1239	10	0.56958	D	0.05	.	19.39	0.94576	0.0:0.0:1.0:0.0	.	1013	Q13224	NMDE2_HUMAN	I	1013	ENSP00000279593:T1013I	ENSP00000279593:T1013I	T	-	2	0	GRIN2B	13608401	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.789000	0.99068	2.596000	0.87737	0.655000	0.94253	ACC		0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	29	0	0	0	1	0	14	29				
ANK3	288	broad.mit.edu	37	10	61830119	61830119	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:61830119C>T	ENST00000280772.2	-	37	10711	c.10520G>A	c.(10519-10521)gGc>gAc	p.G3507D	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3507					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G3507V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGATGTCTGCCTTCCAGTGT	0.428																																						ENST00000280772.1																			1	Substitution - Missense(1)	p.G3507V(1)	liver(1)	NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(10519-10521)gGc>gAc		ankyrin 3, node of Ranvier (ankyrin G)							89.0	88.0	89.0					10																	61830119		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830119C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10520G>A	10.37:g.61830119C>T	ENSP00000280772:p.Gly3507Asp					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.G3507D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	10711	-			3507					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10520G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785682	0.70337	.	.	ENSG00000151150	ENST00000280772	T	0.26223	1.75	5.77	5.77	0.91146	.	0.000000	0.42964	D	0.000623	T	0.47229	0.1434	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14337	-1.0476	10	0.40728	T	0.16	.	19.9837	0.97340	0.0:1.0:0.0:0.0	.	3507	Q12955	ANK3_HUMAN	D	3507	ENSP00000280772:G3507D	ENSP00000280772:G3507D	G	-	2	0	ANK3	61500125	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.631000	0.61304	2.723000	0.93209	0.655000	0.94253	GGC		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		21	97	0	0	0	1	0	21	97				
TIE1	7075	broad.mit.edu	37	1	43779588	43779588	+	Silent	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:43779588C>T	ENST00000372476.3	+	14	2437	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I431I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	786					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTGTGCATCCGCAGAAGCT	0.632																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2356-2358)atC>atT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							77.0	70.0	72.0					1																	43779588		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779588C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2358C>T	1.37:g.43779588C>T						TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I431I	p.I786I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2437	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	786					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.2358C>T	CCDS482.1																																																																																				0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		13	35	0	0	0	1	0	13	35				
HDGF	3068	broad.mit.edu	37	1	156714094	156714094	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:156714094T>C	ENST00000357325.5	-	4	664	c.350A>G	c.(349-351)gAa>gGa	p.E117G	HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	117	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTCTGCAGCTTCGGGCTCTGG	0.592																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(349-351)gAa>gGa		hepatoma-derived growth factor							390.0	358.0	369.0					1																	156714094		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714094T>C	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.350A>G	1.37:g.156714094T>C	ENSP00000349878:p.Glu117Gly					HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000465180.1_5'UTR	p.E117G	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	4	664	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	117			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.350A>G	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	T	7.818	0.717237	0.15372	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.01	5.01	0.66863	.	0.454558	0.20985	U	0.082142	T	0.56247	0.1972	M	0.65498	2.005	0.20764	N	0.999859	B;P;B;B;B	0.49090	0.003;0.919;0.421;0.003;0.029	B;B;B;B;B	0.42692	0.002;0.395;0.154;0.001;0.018	T	0.54029	-0.8354	10	0.37606	T	0.19	-9.3477	12.7088	0.57078	0.0:0.0:0.0:1.0	.	92;117;133;110;117	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	G	117;110;117;85;133;140	ENSP00000349878:E117G;ENSP00000357192:E110G;ENSP00000443120:E117G;ENSP00000416752:E85G;ENSP00000357189:E133G	ENSP00000349878:E117G	E	-	2	0	HDGF	154980718	0.941000	0.31946	0.094000	0.20943	0.300000	0.27592	2.885000	0.48570	1.889000	0.54706	0.369000	0.22263	GAA		0.592	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		25	372	0	0	0	1	0	25	372				
BRINP3	339479	broad.mit.edu	37	1	190067681	190067681	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:190067681C>T	ENST00000367462.3	-	8	1999	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E488K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	590					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AAGCTGTTTTCATTCACAGGC	0.458																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1768-1770)Gaa>Aaa									144.0	148.0	147.0					1																	190067681		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067681C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1768G>A	1.37:g.190067681C>T	ENSP00000356432:p.Glu590Lys					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E488K	p.E590K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1999	-	Prostate(682;0.198)		590					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1768G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335742	0.81801	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21543	2.27;2.0	5.81	5.81	0.92471	.	0.105213	0.64402	D	0.000005	T	0.46658	0.1404	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.36359	-0.9751	10	0.87932	D	0	.	17.5652	0.87918	0.0:1.0:0.0:0.0	.	488;590	B7Z260;Q76B58	.;FAM5C_HUMAN	K	590;488	ENSP00000356432:E590K;ENSP00000438022:E488K	ENSP00000356432:E590K	E	-	1	0	FAM5C	188334304	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.968000	0.56809	2.750000	0.94351	0.585000	0.79938	GAA		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		41	130	0	0	0	1	0	41	130				
ZNF285	26974	broad.mit.edu	37	19	44891645	44891645	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr19:44891645G>A	ENST00000330997.4	-	4	826	c.762C>T	c.(760-762)caC>caT	p.H254H	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.H254H|ZNF285_ENST00000591679.1_Silent_p.H261H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTTCTCCTAGGTGAGTGCTGT	0.433																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(760-762)caC>caT		zinc finger protein 285							93.0	98.0	96.0					19																	44891645		2203	4298	6501	SO:0001819	synonymous_variant	26974							g.chr19:44891645G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.762C>T	19.37:g.44891645G>A						ZNF285_ENST00000544719.2_Silent_p.H254H|ZNF285_ENST00000591679.1_Silent_p.H261H|CTC-512J12.6_ENST00000588212.1_Intron	p.H254H	NM_152354.3	NP_689567.3					4	826	-								Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.762C>T	CCDS12638.1																																																																																				0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		9	114	0	0	0	1	0	9	114				
C10orf90	118611	broad.mit.edu	37	10	128114440	128114440	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:128114440G>A	ENST00000284694.7	-	9	2213	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	C10orf90_ENST00000480379.1_Missense_Mutation_p.A102V|C10orf90_ENST00000544758.1_Missense_Mutation_p.A795V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A601V|C10orf90_ENST00000356858.3_3'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	698	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A698V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGGTTAGACCGCATTCCTTTG	0.483																																						ENST00000284694.7																			1	Substitution - Missense(1)	p.A698V(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2092-2094)gCg>gTg		chromosome 10 open reading frame 90							105.0	98.0	100.0					10																	128114440		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128114440G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.2093C>T	10.37:g.128114440G>A	ENSP00000284694:p.Ala698Val					C10orf90_ENST00000544758.1_Missense_Mutation_p.A795V|C10orf90_ENST00000480379.1_Missense_Mutation_p.A102V|C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.A601V	p.A698V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	9	2213	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	698					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.2093C>T	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398313|4.398313	0.83120|0.83120	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758|ENST00000424927	T;T;T|.	0.22134|.	1.97;2.06;1.98|.	5.58|5.58	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.43919|.	D|.	0.000505|.	T|T	0.37812|0.37812	0.1017|0.1017	N|N	0.08118|0.08118	0|0	0.38199|0.38199	D|D	0.94014|0.94014	D;D;D|.	0.69078|.	0.997;0.996;0.99|.	P;P;P|.	0.55508|.	0.766;0.777;0.665|.	T|T	0.30446|0.30446	-0.9978|-0.9978	10|5	0.52906|.	T|.	0.07|.	-21.9319|-21.9319	13.9111|13.9111	0.63866|0.63866	0.0:0.0:0.8492:0.1508|0.0:0.0:0.8492:0.1508	.|.	795;698;601|.	F5GZL2;Q96M02;Q96M02-2|.	.;CJ090_HUMAN;.|.	V|W	651;698;601;795|241	ENSP00000284694:A698V;ENSP00000398786:A601V;ENSP00000444369:A795V|.	ENSP00000284694:A698V|.	A|R	-|-	2|1	0|2	C10orf90|C10orf90	128104430|128104430	0.993000|0.993000	0.37304|0.37304	0.072000|0.072000	0.20136|0.20136	0.343000|0.343000	0.28985|0.28985	4.314000|4.314000	0.59166|0.59166	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		3	36	0	0	0	1	0	3	36				
PIWIL1	9271	broad.mit.edu	37	12	130830351	130830351	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:130830351C>T	ENST00000245255.3	+	4	516	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	82					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAGAGGAGGTCGTCGTAGAGA	0.363																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(244-246)Cgt>Tgt		piwi-like RNA-mediated gene silencing 1							163.0	156.0	158.0					12																	130830351		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130830351C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.244C>T	12.37:g.130830351C>T	ENSP00000245255:p.Arg82Cys						p.R82C	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	4	516	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		82					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.244C>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966841	0.92855	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	5.98	5.98	0.97165	.	0.047272	0.85682	D	0.000000	T	0.34424	0.0897	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.91;0.947	T	0.00398	-1.1764	10	0.40728	T	0.16	-4.5675	19.4463	0.94849	0.0:1.0:0.0:0.0	.	82;82	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	82	ENSP00000245255:R82C;ENSP00000442086:R82C;ENSP00000440677:R82C;ENSP00000439096:R82C;ENSP00000444353:R82C;ENSP00000438582:R82C	ENSP00000245255:R82C	R	+	1	0	PIWIL1	129396304	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.697000	0.68295	2.835000	0.97688	0.650000	0.86243	CGT		0.363	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			17	63	0	0	0	1	0	17	63				
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A	rs372527508|rs371577081	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr6:35810383T>A	ENST00000373825.2	-	14	1906		c.e14-2		SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site					SRSF protein kinase 1									p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.e14-2		SRSF protein kinase 1							55.0	50.0	52.0					6																	35810383		1838	4093	5931	SO:0001630	splice_region_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35810383T>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1621-2A>T	6.37:g.35810383T>A						SRPK1_ENST00000373822.1_Splice_Site|SRPK1_ENST00000423325.2_Splice_Site				Q96SB4	SRPK1_HUMAN			14	1906	-									Splice_Site	SNP	ENST00000373825.2	37		CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331210	0.81690	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1951	0.73081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRPK1	35918361	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.651000	0.83577	2.051000	0.60960	0.402000	0.26972	.		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	Intron	4	24	0	0	0	1	0	4	24				
ANKK1	255239	broad.mit.edu	37	11	113270738	113270738	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:113270738G>T	ENST00000303941.3	+	8	2141	c.2047G>T	c.(2047-2049)Gca>Tca	p.A683S		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	683							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAACATCACGCAAATGTCCA	0.632																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(2047-2049)Gca>Tca		ankyrin repeat and kinase domain containing 1							62.0	69.0	66.0					11																	113270738		2067	4198	6265	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270738G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2047G>T	11.37:g.113270738G>T	ENSP00000306678:p.Ala683Ser						p.A683S	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	2141	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	683						Missense_Mutation	SNP	ENST00000303941.3	37	c.2047G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315509	0.23908	.	.	ENSG00000170209	ENST00000303941	T	0.25414	1.8	4.53	2.66	0.31614	Ankyrin repeat-containing domain (4);	0.103393	0.40908	D	0.000990	T	0.51702	0.1690	M	0.80616	2.505	0.26601	N	0.973014	B	0.32283	0.362	P	0.59012	0.85	T	0.51639	-0.8680	10	0.72032	D	0.01	-3.745	9.6143	0.39681	0.1699:0.0:0.8301:0.0	.	683	Q8NFD2	ANKK1_HUMAN	S	683	ENSP00000306678:A683S	ENSP00000306678:A683S	A	+	1	0	ANKK1	112775948	0.967000	0.33354	0.001000	0.08648	0.001000	0.01503	3.335000	0.52105	0.542000	0.28846	0.514000	0.50259	GCA		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		8	47	1	0	1.06961e-07	1	1.16262e-07	8	47				
LRRC37A11P	342666	broad.mit.edu	37	17	37186446	37186446	+	RNA	SNP	G	G	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr17:37186446G>T	ENST00000425901.2	+	0	288					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AACCCAGCAGGAAGCTGCAGC	0.532																																						ENST00000425901.2																			0																																																			0							g.chr17:37186446G>T			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37186446G>T								NR_033753.2						0	288	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.532	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		4	87	1	0	0.000602214	1	0.000614504	4	87				
ASB2	51676	broad.mit.edu	37	14	94420793	94420793	+	Silent	SNP	G	G	A	rs146382240	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr14:94420793G>A	ENST00000315988.4	-	2	692	c.204C>T	c.(202-204)ggC>ggT	p.G68G	ASB2_ENST00000555019.1_Silent_p.G116G|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	68					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTCTTCATCGCCATCCTTGA	0.602													G|||	7	0.00139776	0.0053	0.0	5008	,	,		20384	0.0		0.0	False		,,,				2504	0.0					ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(346-348)ggC>ggT		ankyrin repeat and SOCS box containing 2		G	,	24,4382	31.7+/-61.6	0,24,2179	96.0	79.0	85.0		348,204	-8.4	0.0	14	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASB2	NM_001202429.1,NM_016150.4	,	0,24,6479	AA,AG,GG		0.0,0.5447,0.1845	,	116/636,68/588	94420793	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94420793G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.204C>T	14.37:g.94420793G>A						ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.G68G	p.G116G	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	778	-		all_cancers(154;0.13)	68					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.348C>T	CCDS9915.1																																																																																				0.602	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			11	36	0	0	0	1	0	11	36				
SLC25A3	5250	broad.mit.edu	37	12	98995223	98995223	+	Missense_Mutation	SNP	G	G	A	rs11544657		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:98995223G>A	ENST00000228318.3	+	8	1126	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	SLC25A3_ENST00000551917.1_Missense_Mutation_p.V336M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.V335M|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000401722.3_Missense_Mutation_p.V335M|SLC25A3_ENST00000188376.5_Missense_Mutation_p.V335M|SLC25A3_ENST00000549338.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000548847.1_Missense_Mutation_p.V298M	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	336					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CTATGACTCCGTGAAGGTCTA	0.468																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(1003-1005)Gtg>Atg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3		G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	153.0	146.0	148.0		1003,1006,1003	5.5	1.0	12	dbSNP_120	148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC25A3	NM_002635.3,NM_005888.3,NM_213611.2	21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	335/362,336/363,335/362	98995223	1,13005	2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98995223G>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1006G>A	12.37:g.98995223G>A	ENSP00000228318:p.Val336Met					SLC25A3_ENST00000549338.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000548847.1_Missense_Mutation_p.V298M|SLC25A3_ENST00000401722.3_Missense_Mutation_p.V335M|SLC25A3_ENST00000228318.3_Missense_Mutation_p.V336M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000551917.1_Missense_Mutation_p.V336M	p.V335M	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	7	1357	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	336					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.1003G>A	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896309	0.91962	0.0	1.16E-4	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.81942	2.565	0.80722	D	1	D;P;D;D	0.63880	0.977;0.911;0.993;0.993	P;P;P;P	0.56514	0.701;0.658;0.657;0.8	T	0.54576	-0.8273	10	0.66056	D	0.02	-27.1035	19.7153	0.96115	0.0:0.0:1.0:0.0	rs11544657;rs11544657	298;335;336;335	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	M	335;335;336;336;335;335;298	ENSP00000383898:V335M;ENSP00000188376:V335M;ENSP00000228318:V336M;ENSP00000447310:V336M;ENSP00000448708:V335M;ENSP00000447740:V335M;ENSP00000449166:V298M	ENSP00000188376:V335M	V	+	1	0	SLC25A3	97519354	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.340000	0.79292	2.731000	0.93534	0.655000	0.94253	GTG		0.468	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		4	137	0	0	0	1	0	4	137				
P4HTM	54681	broad.mit.edu	37	3	49042345	49042345	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:49042345G>A	ENST00000383729.4	+	6	1310	c.939G>A	c.(937-939)ccG>ccA	p.P313P	WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Silent_p.P313P|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	313	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TCAGCGAGCCGCTGCAGGTTG	0.632																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(937-939)ccG>ccA		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						81.0	73.0	76.0					3																	49042345		2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042345G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.939G>A	3.37:g.49042345G>A						P4HTM_ENST00000383729.4_Silent_p.P313P	p.P313P	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			6	1307	+			313			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.939G>A	CCDS43089.1																																																																																				0.632	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	43	0	0	0	1	0	5	43				
IGSF1	3547	broad.mit.edu	37	X	130419246	130419246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:130419246C>A	ENST00000361420.3	-	5	653	c.574G>T	c.(574-576)Gag>Tag	p.E192*	IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.E183*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	192	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCTTCATCCTCAGGTGTCAGG	0.517																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(547-549)Gag>Tag		immunoglobulin superfamily, member 1							190.0	135.0	154.0					X																	130419246		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130419246C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.574G>T	X.37:g.130419246C>A	ENSP00000355010:p.Glu192*					IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*	p.E183*			Q8N6C5	IGSF1_HUMAN			11	1457	-			192			Ig-like C2-type 2.		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.547G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543760	0.86022	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903;ENST00000370901;ENST00000370900	.	.	.	4.01	4.01	0.46588	.	0.000000	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.5268	0.44954	0.0:1.0:0.0:0.0	.	.	.	.	X	183;192;183;192;192;192	.	ENSP00000355010:E192X	E	-	1	0	IGSF1	130246927	0.505000	0.26131	0.995000	0.50966	0.963000	0.63663	0.925000	0.28791	2.243000	0.73865	0.600000	0.82982	GAG		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			28	36	1	0	3.73988e-18	1	4.3487e-18	28	36				
TP63	8626	broad.mit.edu	37	3	189586471	189586471	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:189586471G>A	ENST00000264731.3	+	8	1184	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000392460.3_Silent_p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCAAGTTTCGGACAGTACAA	0.532										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1093-1095)tcG>tcA		tumor protein p63							131.0	123.0	126.0					3																	189586471		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586471G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1095G>A	3.37:g.189586471G>A		HNSCC(45;0.13)				TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S	p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1184	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		365			Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1095G>A	CCDS3293.1																																																																																				0.532	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		14	77	0	0	0	1	0	14	77				
KRT9	3857	broad.mit.edu	37	17	39724878	39724878	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr17:39724878T>C	ENST00000246662.4	-	5	1117	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	351	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATGCTCGATCTGGGTTATCTG	0.557																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1051-1053)cAg>cGg		keratin 9							270.0	254.0	259.0					17																	39724878		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724878T>C		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1052A>G	17.37:g.39724878T>C	ENSP00000246662:p.Gln351Arg					KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	p.Q351R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			5	1117	-		Breast(137;0.000307)	351			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1052A>G	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929208	0.73327	.	.	ENSG00000171403	ENST00000246662	D	0.97752	-4.52	5.15	4.07	0.47477	Filament (1);	0.284083	0.19070	N	0.123524	D	0.95098	0.8412	L	0.57536	1.79	0.09310	N	1	P	0.39480	0.675	B	0.32465	0.146	D	0.90054	0.4151	10	0.87932	D	0	.	8.9283	0.35655	0.0:0.0855:0.0:0.9145	.	351	P35527	K1C9_HUMAN	R	351	ENSP00000246662:Q351R	ENSP00000246662:Q351R	Q	-	2	0	KRT9	36978404	0.154000	0.22792	0.007000	0.13788	0.751000	0.42716	3.413000	0.52686	0.779000	0.33543	0.459000	0.35465	CAG		0.557	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		62	182	0	0	0	1	0	62	182				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	67	0	0	0	1	0	4	67				
CEP135	9662	broad.mit.edu	37	4	56886920	56886920	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:56886920G>A	ENST00000257287.4	+	24	3418	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1098					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGAAAAGGCAGATCTCAA	0.323																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3292-3294)agG>agA		centrosomal protein 135kDa							138.0	145.0	143.0					4																	56886920		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56886920G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3294G>A	4.37:g.56886920G>A							p.R1098R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			24	3418	+	Glioma(25;0.08)|all_neural(26;0.101)		1098					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.3294G>A	CCDS33986.1																																																																																				0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		14	123	0	0	0	1	0	14	123				
CDH9	1007	broad.mit.edu	37	5	26906108	26906108	+	Silent	SNP	C	C	T	rs141361996		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr5:26906108C>T	ENST00000231021.4	-	5	943	c.771G>A	c.(769-771)acG>acA	p.T257T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	257	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T257T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATCTGTCAGCGTGATGTTCA	0.463																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			1	Substitution - coding silent(1)	p.T257T(1)	breast(1)	breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(769-771)acG>acA		cadherin 9, type 2 (T1-cadherin)		C		1,4405	2.1+/-5.4	0,1,2202	248.0	226.0	234.0		771	-11.2	0.2	5	dbSNP_134	234	0,8600		0,0,4300	no	coding-synonymous	CDH9	NM_016279.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		257/790	26906108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906108C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.771G>A	5.37:g.26906108C>T							p.T257T	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			5	943	-			257			Cadherin 2.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.771G>A	CCDS3893.1																																																																																				0.463	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		10	95	0	0	0	1	0	10	95				
CROCCP2	84809	broad.mit.edu	37	1	16952962	16952962	+	lincRNA	SNP	G	G	A	rs542596577	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:16952962G>A	ENST00000412962.1	-	0	654							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCTTGGTCACGGAGAGCTCGA	0.612													.|||	6	0.00119808	0.0015	0.0	5008	,	,		64982	0.001		0.001	False		,,,				2504	0.002					ENST00000412962.1																			0																																																			0							g.chr1:16952962G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16952962G>A														0	654	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	37	0	0	0	1	0	4	37				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	66	0	0	0	1	0	4	66				
TUBGCP4	27229	broad.mit.edu	37	15	43696671	43696671	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr15:43696671A>G	ENST00000260383.7	+	17	2166	c.1912A>G	c.(1912-1914)Atc>Gtc	p.I638V	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.I637V			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	638					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAATCATCAGATCAACTCAGA	0.478																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1909-1911)Atc>Gtc		tubulin, gamma complex associated protein 4							100.0	93.0	95.0					15																	43696671		1894	4113	6007	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43696671A>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1912A>G	15.37:g.43696671A>G	ENSP00000260383:p.Ile638Val					TUBGCP4_ENST00000260383.7_Missense_Mutation_p.I638V|TUBGCP4_ENST00000399460.3_3'UTR	p.I637V	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	17	2149	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	638					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1909A>G		.	.	.	.	.	.	.	.	.	.	A	16.90	3.250393	0.59212	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	N	0.08118	0	0.80722	D	1	B;B	0.18863	0.018;0.031	B;B	0.30251	0.053;0.113	T	0.30966	-0.9960	9	0.22706	T	0.39	-16.3089	15.4929	0.75624	1.0:0.0:0.0:0.0	.	638;637	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	V	637	.	ENSP00000260383:I637V	I	+	1	0	TUBGCP4	41483963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.057000	0.93889	2.308000	0.77769	0.533000	0.62120	ATC		0.478	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		3	51	0	0	0	1	0	3	51				
ERBB3	2065	broad.mit.edu	37	12	56481841	56481841	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:56481841C>T	ENST00000267101.3	+	7	1209	c.769C>T	c.(769-771)Cct>Tct	p.P257S	ERBB3_ENST00000415288.2_Missense_Mutation_p.P198S|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	257					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCCTGTGTACCTCGCTGTCC	0.517																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(769-771)Cct>Tct		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							93.0	87.0	89.0					12																	56481841		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481841C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.769C>T	12.37:g.56481841C>T	ENSP00000267101:p.Pro257Ser					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P198S	p.P257S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		7	1209	+			257					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.769C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	5.530	0.282690	0.10458	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.83163	-1.69;-1.69	4.78	3.8	0.43715	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.427811	0.21180	N	0.078840	T	0.64549	0.2608	N	0.16233	0.39	0.23751	N	0.996942	B	0.02656	0.0	B	0.08055	0.003	T	0.44711	-0.9310	10	0.10377	T	0.69	.	6.8992	0.24273	0.1786:0.72:0.0:0.1014	.	257	P21860	ERBB3_HUMAN	S	257;257;198	ENSP00000267101:P257S;ENSP00000408340:P198S	ENSP00000267101:P257S	P	+	1	0	ERBB3	54768108	0.000000	0.05858	0.957000	0.39632	0.837000	0.47467	0.590000	0.23954	2.482000	0.83794	0.563000	0.77884	CCT		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			22	33	0	0	0	1	0	22	33				
ERBB3	2065	broad.mit.edu	37	12	56482346	56482346	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:56482346A>T	ENST00000267101.3	+	8	1334	c.894A>T	c.(892-894)caA>caT	p.Q298H	ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	298					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTGGATCAAACATCCTGTG	0.507																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(892-894)caA>caT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							215.0	207.0	210.0					12																	56482346		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56482346A>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.894A>T	12.37:g.56482346A>T	ENSP00000267101:p.Gln298His					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H	p.Q298H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1334	+			298					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.894A>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	0.612	-0.824668	0.02755	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.63913	-0.07;-0.07	5.2	-8.92	0.00774	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.200442	0.34291	N	0.004096	T	0.28599	0.0708	N	0.04508	-0.205	0.45307	D	0.998305	B	0.06786	0.001	B	0.09377	0.004	T	0.11867	-1.0570	10	0.19147	T	0.46	.	12.6724	0.56874	0.7505:0.0913:0.1582:0.0	.	298	P21860	ERBB3_HUMAN	H	298;298;239	ENSP00000267101:Q298H;ENSP00000408340:Q239H	ENSP00000267101:Q298H	Q	+	3	2	ERBB3	54768613	0.000000	0.05858	0.057000	0.19452	0.282000	0.26991	-2.247000	0.01190	-1.497000	0.01826	-0.468000	0.05107	CAA		0.507	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			19	156	0	0	0	1	0	19	156				
DNAH11	8701	broad.mit.edu	37	7	21840819	21840819	+	Missense_Mutation	SNP	G	G	A	rs369682703		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr7:21840819G>A	ENST00000409508.3	+	62	10122	c.10091G>A	c.(10090-10092)cGg>cAg	p.R3364Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3371Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3371	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAAAGTCCGGTGTCAAGAA	0.388									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10111-10113)cGg>cAg		dynein, axonemal, heavy chain 11		G	GLN/ARG	1,3815		0,1,1907	70.0	68.0	69.0		10113	2.2	0.0	7		69	0,8242		0,0,4121	no	missense	DNAH11	NM_003777.3	43	0,1,6028	AA,AG,GG		0.0,0.0262,0.0083	benign	3371/4524	21840819	1,12057	1908	4121	6029	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21840819G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10091G>A	7.37:g.21840819G>A	ENSP00000475939:p.Arg3364Gln					DNAH11_ENST00000409508.3_Missense_Mutation_p.R3364Q	p.R3371Q			Q96DT5	DYH11_HUMAN			63	10143	+			3371			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10112G>A		.	.	.	.	.	.	.	.	.	.	G	16.60	3.167932	0.57476	2.62E-4	0.0	ENSG00000105877	ENST00000328843	T	0.74632	-0.86	5.93	2.19	0.27852	Dynein heavy chain, coiled coil stalk (1);	0.279051	0.40818	N	0.001019	T	0.62183	0.2407	.	.	.	0.29119	N	0.880376	P	0.34800	0.469	B	0.32583	0.148	T	0.55088	-0.8195	9	0.39692	T	0.17	.	10.471	0.44638	0.2561:0.0:0.7439:0.0	.	3371	Q96DT5	DYH11_HUMAN	Q	3371	ENSP00000330671:R3371Q	ENSP00000330671:R3371Q	R	+	2	0	DNAH11	21807344	0.031000	0.19500	0.019000	0.16419	0.997000	0.91878	1.922000	0.40045	0.128000	0.18479	0.655000	0.94253	CGG		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	11	0	0	0	1	0	4	11				
OBSL1	23363	broad.mit.edu	37	2	220428291	220428291	+	Frame_Shift_Del	DEL	G	G	-	rs146306059	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr2:220428291delG	ENST00000404537.1	-	7	2522	c.2466delC	c.(2464-2466)tccfs	p.S822fs	OBSL1_ENST00000265318.4_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.S409fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.S822fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	822	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGACACACTCGGAAGTTATGG	0.607																																						ENST00000404537.1																			0											c.(2464-2466)tcfs		obscurin-like 1							122.0	124.0	123.0					2																	220428291		2168	4256	6424	SO:0001589	frameshift_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220428291delG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2466delC	2.37:g.220428291delG	ENSP00000385636:p.Ser822fs					OBSL1_ENST00000603926.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.S409fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.S822fs	p.S822fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	7	2522	-		Renal(207;0.0376)	822			Ig-like 6.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	ENST00000404537.1	37	c.2466delC	CCDS46520.1																																																																																				0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			11	107						11	107	---	---	---	---
LCORL	254251	broad.mit.edu	37	4	17910904	17910905	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:17910904_17910905delTA	ENST00000382226.5	-	5	602_603	c.494_495delTA	c.(493-495)atafs	p.I165fs	LCORL_ENST00000382224.1_Frame_Shift_Del_p.I81fs|LCORL_ENST00000326877.4_Frame_Shift_Del_p.I165fs|LCORL_ENST00000539056.1_Frame_Shift_Del_p.I78fs	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	165					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CAAATTGACGTATCATCTTTTT	0.312																																						ENST00000382226.5																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(493-495)afs		ligand dependent nuclear receptor corepressor-like																																				SO:0001589	frameshift_variant	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17910904_17910905delTA		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.494_495delTA	4.37:g.17910904_17910905delTA	ENSP00000371661:p.Ile165fs					LCORL_ENST00000382224.1_Frame_Shift_Del_p.I81fs|LCORL_ENST00000326877.3_Frame_Shift_Del_p.I165fs|LCORL_ENST00000539056.1_Frame_Shift_Del_p.I78fs	p.I165fs	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN			5	602_603	-			165					Q96NK1	Frame_Shift_Del	DEL	ENST00000382226.5	37	c.494_495delTA	CCDS54749.1																																																																																				0.312	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		16	57						16	57	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327916	16327918	+	In_Frame_Del	DEL	TGC	TGC	-	rs28555263	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr6:16327916_16327918delTGC	ENST00000244769.4	-	8	1560_1562	c.624_626delGCA	c.(622-627)cagcat>cat	p.Q208del	ATXN1_ENST00000436367.1_In_Frame_Del_p.Q208del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgatgctgatgctgctgctgct	0.665																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(622-627)cat>ca		ataxin 1																																				SO:0001651	inframe_deletion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327916_16327918delTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626delGCA	6.37:g.16327925_16327927delTGC	ENSP00000244769:p.Gln208del					ATXN1_ENST00000436367.1_In_Frame_Del_p.QH210del	p.QH210del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1560_1562	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	210			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	c.624_626delGCA	CCDS34342.1																																																																																				0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	9						4	9	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.S234delS(1)|p.S226G(1)	central_nervous_system(1)|skin(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-678)ggc>g		basic helix-loop-helix family, member e22																																				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494021_65494023delGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.674_676delGCA	8.37:g.65494030_65494032delGCA	ENSP00000318799:p.Ser234del					RP11-21C4.1_ENST00000517909.1_RNA	p.GS225del	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1208_1210	+			225			Gly-rich.|Ser-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.674_676delGCA	CCDS6179.1																																																																																				0.709	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---
AQP5	362	broad.mit.edu	37	12	50357351	50357360	+	Frame_Shift_Del	DEL	TCGCCTCCAC	TCGCCTCCAC	-			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:50357351_50357360delTCGCCTCCAC	ENST00000293599.6	+	2	588_597	c.440_449delTCGCCTCCAC	c.(439-450)ttcgcctccactfs	p.FAST147fs	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	147					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CTCTGCATCTTCGCCTCCACTGACTCCCGC	0.619																																						ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(439-450)ttfs		aquaporin 5																																				SO:0001589	frameshift_variant	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50357351_50357360delTCGCCTCCAC	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.440_449delTCGCCTCCAC	12.37:g.50357351_50357360delTCGCCTCCAC	ENSP00000293599:p.Phe147fs						p.FAST147fs	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN			2	588_597	+			147					Q6FGW8	Frame_Shift_Del	DEL	ENST00000293599.6	37	c.440_449delTCGCCTCCAC	CCDS8793.1																																																																																				0.619	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		10	58						10	58	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			0							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	3						3	3	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	A	-			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433																																						ENST00000563328.2																			0																																																			0							g.chr16:72763869delA																													16.37:g.72763869delA														0	164	+									RNA	DEL	ENST00000563328.2	37																																																																																						0.433	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			3	6						3	6	---	---	---	---
