#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
FRY	10129	broad.mit.edu	37	13	32841383	32841383	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr13:32841383G>A	ENST00000380250.3	+	55	8519	c.8023G>A	c.(8023-8025)Gca>Aca	p.A2675T	FRY_ENST00000542859.1_Missense_Mutation_p.A45T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2675						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTTCAGCCCGCAGCCTGTGA	0.547																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8023-8025)Gca>Aca		furry homolog (Drosophila)							97.0	104.0	102.0					13																	32841383		2055	4196	6251	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32841383G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8023G>A	13.37:g.32841383G>A	ENSP00000369600:p.Ala2675Thr					FRY_ENST00000542859.1_Missense_Mutation_p.A45T	p.A2675T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	55	8519	+		Lung SC(185;0.0271)	2675					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.8023G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061486	0.19987	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.23552	1.9	5.52	-7.8	0.01214	.	0.559083	0.20315	N	0.094751	T	0.08714	0.0216	N	0.02916	-0.46	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	10	0.11182	T	0.66	.	18.6285	0.91350	0.8013:0.0:0.1987:0.0	.	456;2675	Q8NB82;Q5TBA9	.;FRY_HUMAN	T	2675;319;45	ENSP00000369600:A2675T	ENSP00000369567:A319T	A	+	1	0	FRY	31739383	0.001000	0.12720	0.002000	0.10522	0.620000	0.37586	-0.170000	0.09897	-2.024000	0.00936	-0.761000	0.03458	GCA		0.547	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		7	865	0	0	0	1	0	7	865				
LRRC42	115353	broad.mit.edu	37	1	54426130	54426130	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:54426130C>A	ENST00000371370.3	+	5	1228	c.707C>A	c.(706-708)aCa>aAa	p.T236K	LRRC42_ENST00000319223.4_Missense_Mutation_p.T236K	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	236										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GAGAATCTAACATTATTAGAC	0.373																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(706-708)aCa>aAa		leucine rich repeat containing 42							121.0	118.0	119.0					1																	54426130		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426130C>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.707C>A	1.37:g.54426130C>A	ENSP00000360421:p.Thr236Lys					LRRC42_ENST00000319223.4_Missense_Mutation_p.T236K	p.T236K	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			5	1228	+			236					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.707C>A	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180059	0.01633	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T	0.00882	5.58;5.58	5.71	3.83	0.44106	.	0.536026	0.20896	N	0.083736	T	0.00356	0.0011	N	0.00841	-1.15	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.45716	-0.9242	10	0.05721	T	0.95	-2.5386	5.3175	0.15864	0.1551:0.6281:0.0:0.2168	.	236;236	E7EP35;Q9Y546	.;LRC42_HUMAN	K	236	ENSP00000360421:T236K;ENSP00000318185:T236K	ENSP00000318185:T236K	T	+	2	0	LRRC42	54198718	0.001000	0.12720	0.485000	0.27403	0.645000	0.38454	1.438000	0.35002	1.572000	0.49736	0.561000	0.74099	ACA		0.373	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		76	130	1	0	1.7488e-33	1	1.9789e-33	76	130				
FAM83G	644815	broad.mit.edu	37	17	18882872	18882872	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:18882872C>T	ENST00000388995.6	-	4	1028	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G269S|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G269S|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	269					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGTAGGAGCCGCACACAGCC	0.577																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(805-807)Ggc>Agc		family with sequence similarity 83, member G							46.0	56.0	53.0					17																	18882872		2014	4175	6189	SO:0001583	missense	644815							g.chr17:18882872C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.805G>A	17.37:g.18882872C>T	ENSP00000373647:p.Gly269Ser					SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G269S|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G269S|SLC5A10_ENST00000395642.1_Intron	p.G269S			A6ND36	FA83G_HUMAN			4	1028	-			269					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.805G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874288	0.97055	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.72942	-0.7;-0.7	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89810	0.3981	10	0.87932	D	0	-45.8976	19.48	0.95005	0.0:1.0:0.0:0.0	.	269	A6ND36	FA83G_HUMAN	S	269	ENSP00000373647:G269S;ENSP00000343279:G269S	ENSP00000343279:G269S	G	-	1	0	FAM83G	18823597	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GGC		0.577	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			4	240	0	0	0	1	0	4	240				
DNAH10	196385	broad.mit.edu	37	12	124298029	124298029	+	Missense_Mutation	SNP	C	C	T	rs138397621	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:124298029C>T	ENST00000409039.3	+	19	3134	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1037	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1037C(1)|p.R855C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGGTTATGCGCCACCCTCT	0.443																																						ENST00000409039.3																			2	Substitution - Missense(2)	p.R1037C(1)|p.R855C(1)	lung(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3109-3111)Cgc>Tgc		dynein, axonemal, heavy chain 10		C	CYS/ARG	0,4406		0,0,2203	93.0	87.0	89.0		3109	5.8	0.1	12	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DNAH10	NM_207437.3	180	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	1037/4472	124298029	6,13000	2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124298029C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3109C>T	12.37:g.124298029C>T	ENSP00000386770:p.Arg1037Cys						p.R1037C	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3134	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1037			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3109C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935330	0.34189	0.0	6.98E-4	ENSG00000197653	ENST00000409039	T	0.22743	1.94	5.83	5.83	0.93111	.	0.186131	0.36200	N	0.002740	T	0.31575	0.0801	L	0.39898	1.24	0.09310	N	0.999991	P;B;P	0.49559	0.925;0.437;0.738	P;B;B	0.50617	0.646;0.276;0.39	T	0.05835	-1.0861	10	0.59425	D	0.04	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	1037;912;1037	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	C	1037	ENSP00000386770:R1037C	ENSP00000386770:R1037C	R	+	1	0	DNAH10	122863982	0.011000	0.17503	0.145000	0.22337	0.004000	0.04260	2.501000	0.45389	2.763000	0.94921	0.563000	0.77884	CGC		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	474	0	0	0	1	0	5	474				
EPC1	80314	broad.mit.edu	37	10	32561075	32561075	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:32561075C>G	ENST00000263062.8	-	13	2222	c.1953G>C	c.(1951-1953)ttG>ttC	p.L651F	EPC1_ENST00000375110.2_Missense_Mutation_p.L578F|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.L628F	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	651					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TAGCAGAATCCAAAGTCTTAG	0.368																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(1882-1884)ttG>ttC		enhancer of polycomb homolog 1 (Drosophila)							55.0	50.0	51.0					10																	32561075		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32561075C>G	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1953G>C	10.37:g.32561075C>G	ENSP00000263062:p.Leu651Phe					EPC1_ENST00000263062.8_Missense_Mutation_p.L651F|EPC1_ENST00000375110.2_Missense_Mutation_p.L578F	p.L628F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			12	2186	-		Prostate(175;0.0199)	651					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1884G>C	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159682	0.78226	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T	0.17054	2.3;2.3	5.78	5.78	0.91487	.	0.066683	0.64402	D	0.000007	T	0.35856	0.0946	L	0.52573	1.65	0.58432	D	0.999995	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.87578	0.94;0.956;0.998	T	0.02026	-1.1227	10	0.72032	D	0.01	-6.6916	13.2984	0.60311	0.0:0.9278:0.0:0.0722	.	578;628;651	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	F	578;628;651	ENSP00000364251:L578F;ENSP00000318559:L628F	ENSP00000263062:L651F	L	-	3	2	EPC1	32601081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.768000	0.55295	2.749000	0.94314	0.460000	0.39030	TTG		0.368	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			114	19	0	0	0	1	0	114	19				
KCNJ12	3768	broad.mit.edu	37	17	21319592	21319592	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:21319592G>A	ENST00000583088.1	+	3	1833	c.938G>A	c.(937-939)cGc>cAc	p.R313H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R313H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	313					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACCCAGGCCCGCAGCTCCTAC	0.592										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(937-939)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 12							108.0	109.0	108.0					17																	21319592		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319592G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.938G>A	17.37:g.21319592G>A	ENSP00000463778:p.Arg313His	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R313H	p.R313H	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1833	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.938G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814601	0.90790	.	.	ENSG00000184185	ENST00000331718	D	0.94897	-3.55	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	.	19.2719	0.94013	0.0:0.0:1.0:0.0	.	313	Q14500	IRK12_HUMAN	H	313	ENSP00000328150:R313H	ENSP00000328150:R313H	R	+	2	0	KCNJ12	21260185	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.698000	0.98700	2.561000	0.86390	0.561000	0.74099	CGC		0.592	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	627	0	0	0	1	0	5	627				
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	rs571576756		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16284	0.0		0.001	False		,,,				2504	0.0					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(919-921)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135.0	149.0	144.0					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H	p.R307H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1401	+			307		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.920G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		6	846	0	0	0	1	0	6	846				
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C	rs199755248		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66.0	66.0	66.0					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		9	207	0	0	0	1	0	9	207				
SRP9	6726	broad.mit.edu	37	1	225971060	225971060	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:225971060A>T	ENST00000304786.7	+	2	243	c.131A>T	c.(130-132)gAt>gTt	p.D44V	SRP9_ENST00000366838.1_Missense_Mutation_p.D44V|SRP9_ENST00000366839.4_Missense_Mutation_p.D44V	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|negative regulation of translational elongation (GO:0045900)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|signal recognition particle receptor complex (GO:0005785)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|RNA binding (GO:0003723)|signal recognition particle binding (GO:0005047)			endometrium(1)|kidney(1)|skin(1)	3						AAAGTAACAGATGATTTAGTT	0.279																																						ENST00000366839.4																			0				endometrium(1)|kidney(1)|skin(1)	3						c.(130-132)gAt>gTt		signal recognition particle 9kDa							142.0	145.0	144.0					1																	225971060		2203	4300	6503	SO:0001583	missense	6726				negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr1:225971060A>T	BC015094	CCDS1546.1, CCDS44323.1	1q42.12	2010-06-03	2002-08-29		ENSG00000143742	ENSG00000143742			11304	protein-coding gene	gene with protein product		600707	"""signal recognition particle 9kD"""			7730321	Standard	NM_001130440		Approved		uc001hpg.3	P49458	OTTHUMG00000037738	ENST00000304786.7:c.131A>T	1.37:g.225971060A>T	ENSP00000305230:p.Asp44Val					SRP9_ENST00000304786.7_Missense_Mutation_p.D44V|SRP9_ENST00000366838.1_Missense_Mutation_p.D44V	p.D44V	NM_001130440.1	NP_001123912.1	P49458	SRP09_HUMAN			2	235	+			44					A8K0N0|Q6NVX0|Q8WTW0	Missense_Mutation	SNP	ENST00000304786.7	37	c.131A>T	CCDS1546.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.275453	0.80580	.	.	ENSG00000143742	ENST00000304786;ENST00000366839;ENST00000366838	.	.	.	5.77	5.77	0.91146	Signal recognition particle, SRP9/SRP14 subunit (2);	0.000000	0.85682	U	0.000000	T	0.80031	0.4549	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.82892	-0.0232	8	0.87932	D	0	-1.8066	14.6735	0.68961	1.0:0.0:0.0:0.0	.	44;44	P49458-2;P49458	.;SRP09_HUMAN	V	44	.	ENSP00000305230:D44V	D	+	2	0	SRP9	224037683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.488000	0.81441	2.200000	0.70718	0.459000	0.35465	GAT		0.279	SRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092054.1	NM_003133		89	34	0	0	0	1	0	89	34				
LSS	4047	broad.mit.edu	37	21	47642587	47642587	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr21:47642587G>A	ENST00000397728.3	-	4	463	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	LSS_ENST00000522411.1_Missense_Mutation_p.R129W|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000457828.2_Missense_Mutation_p.R49W|LSS_ENST00000356396.4_Missense_Mutation_p.R129W|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	129					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CGCAGGTACCGCACAATCTCT	0.592																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(385-387)Cgg>Tgg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							133.0	102.0	112.0					21																	47642587		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47642587G>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.385C>T	21.37:g.47642587G>A	ENSP00000380837:p.Arg129Trp					LSS_ENST00000356396.4_Missense_Mutation_p.R129W|LSS_ENST00000522411.1_Missense_Mutation_p.R129W|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.R49W	p.R129W	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			4	463	-	Breast(49;0.214)		129					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.385C>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887511	0.91814	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.07	5.07	0.68467	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85734	0.1333	10	0.87932	D	0	.	18.4016	0.90518	0.0:0.0:1.0:0.0	.	129;129	E9PEI9;P48449	.;ERG7_HUMAN	W	129;49;129;129;130	ENSP00000348762:R129W;ENSP00000409191:R49W;ENSP00000380837:R129W;ENSP00000429133:R129W;ENSP00000391368:R130W	ENSP00000348762:R129W	R	-	1	2	LSS	46467015	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	4.580000	0.60942	2.512000	0.84698	0.609000	0.83330	CGG		0.592	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			4	139	0	0	0	1	0	4	139				
CHD3	1107	broad.mit.edu	37	17	7796784	7796784	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:7796784G>A	ENST00000330494.7	+	5	840	c.690G>A	c.(688-690)tcG>tcA	p.S230S	CHD3_ENST00000358181.4_Silent_p.S230S|CHD3_ENST00000380358.4_Silent_p.S289S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	230					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTGTCTCGTCGGCCACCCCCA	0.657																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(865-867)tcG>tcA		chromodomain helicase DNA binding protein 3							19.0	20.0	20.0					17																	7796784		2201	4296	6497	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796784G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.690G>A	17.37:g.7796784G>A						CHD3_ENST00000358181.4_Silent_p.S230S|CHD3_ENST00000330494.7_Silent_p.S230S	p.S289S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			5	868	+		Prostate(122;0.202)	230					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.867G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	3.770	-0.047905	0.07407	.	.	ENSG00000170004	ENST00000452447	.	.	.	4.82	-7.83	0.01201	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.45490	D	0.998458	.	.	.	.	.	.	T	0.42666	-0.9438	4	.	.	.	-2.4564	3.0816	0.06264	0.5055:0.1419:0.2166:0.136	.	.	.	.	S	105	.	.	G	+	1	0	CHD3	7737509	0.002000	0.14202	0.268000	0.24571	0.737000	0.42083	-3.061000	0.00623	-1.131000	0.02910	-1.056000	0.02311	GGC		0.657	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	121	0	0	0	1	0	4	121				
OBSCN	84033	broad.mit.edu	37	1	228486354	228486354	+	Intron	SNP	G	G	A	rs376325685	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:228486354G>A	ENST00000422127.1	+	43	11703				OBSCN_ENST00000570156.2_Silent_p.A4382A|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.A1072A|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTCTGTGGCGGATGCTGGGG	0.562													G|||	3	0.000599042	0.0	0.0	5008	,	,		22544	0.0		0.0	False		,,,				2504	0.0031					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13144-13146)gcG>gcA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							141.0	119.0	126.0					1																	228486354		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228486354G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+3610G>A	1.37:g.228486354G>A						OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Silent_p.A1072A|OBSCN_ENST00000366709.4_Intron	p.A4382A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			49	13220	+		Prostate(94;0.0405)	3425			Ig-like 45.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.13146G>A	CCDS58065.1																																																																																				0.562	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	133	0	0	0	1	0	4	133				
BAZ1B	9031	broad.mit.edu	37	7	72877251	72877251	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:72877251C>A	ENST00000339594.4	-	12	3588		c.e12+1		BAZ1B_ENST00000404251.1_Splice_Site	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B						cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TATATTCCTACCCGGGCTTCA	0.418																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e12+1		bromodomain adjacent to zinc finger domain, 1B							80.0	86.0	84.0					7																	72877251		2201	4300	6501	SO:0001630	splice_region_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72877251C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3249+1G>T	7.37:g.72877251C>A						BAZ1B_ENST00000404251.1_Splice_Site		NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			12	3588	-		Lung NSC(55;0.0659)|all_lung(88;0.152)						B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Splice_Site	SNP	ENST00000339594.4	37		CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455618	0.84209	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAZ1B	72515187	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.005000	0.76323	2.738000	0.93877	0.591000	0.81541	.		0.418	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	Intron	7	577	1	0	1.12685e-05	1	1.21136e-05	7	577				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	201	0	0	0	1	0	6	201				
CABLES2	81928	broad.mit.edu	37	20	60970037	60970037	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:60970037G>A	ENST00000279101.5	-	4	569	c.561C>T	c.(559-561)tgC>tgT	p.C187C		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	187					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGAAGGCCGCGCACAGGGACC	0.657																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(559-561)tgC>tgT		Cdk5 and Abl enzyme substrate 2							39.0	38.0	38.0					20																	60970037		2202	4298	6500	SO:0001819	synonymous_variant	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60970037G>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.561C>T	20.37:g.60970037G>A							p.C187C	NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	569	-	Breast(26;2.05e-08)		187					Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	c.561C>T	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	g	2.443	-0.328125	0.05314	.	.	ENSG00000149679	ENST00000370560	.	.	.	5.78	1.07	0.20283	.	.	.	.	.	T	0.57007	0.2024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47911	-0.9080	4	.	.	.	-16.5438	8.8561	0.35229	0.7219:0.0:0.2781:0.0	.	.	.	.	C	12	.	.	R	-	1	0	CABLES2	60403432	0.993000	0.37304	0.962000	0.40283	0.686000	0.39977	0.640000	0.24705	-0.091000	0.12440	-1.046000	0.02355	CGC		0.657	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		4	222	0	0	0	1	0	4	222				
TFAP2B	7021	broad.mit.edu	37	6	50805690	50805690	+	Missense_Mutation	SNP	C	C	A	rs80338914		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:50805690C>A	ENST00000393655.3	+	5	993	c.824C>A	c.(823-825)gCc>gAc	p.A275D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A284D	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	275			A -> D (in CHAR). {ECO:0000269|PubMed:10802654}.		aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATTTCAGAGCCAAATCGAAA	0.423																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	GRCh37	CM000832	TFAP2B	M	rs80338914	c.(850-852)gCc>gAc		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							82.0	93.0	89.0					6																	50805690		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805690C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.824C>A	6.37:g.50805690C>A	ENSP00000377265:p.Ala275Asp					TFAP2B_ENST00000393655.3_Missense_Mutation_p.A275D	p.A284D			Q92481	AP2B_HUMAN			6	1017	+	Lung NSC(77;0.156)		275					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.851C>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909537	0.92107	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97731	-4.51;-4.51	5.63	5.63	0.86233	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.92507	3.315	0.80722	A	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99414	1.0931	9	0.87932	D	0	-20.6802	20.0471	0.97613	0.0:1.0:0.0:0.0	.	275	Q92481	AP2B_HUMAN	D	275;284	ENSP00000377265:A275D;ENSP00000263046:A284D	ENSP00000263046:A284D	A	+	2	0	TFAP2B	50913649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.815000	0.96918	0.561000	0.74099	GCC		0.423	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		5	356	1	0	1	1	1	5	356				
SERPINA5	5104	broad.mit.edu	37	14	95058575	95058575	+	Nonstop_Mutation	SNP	G	G	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:95058575G>T	ENST00000554866.1	+	5	1334	c.1220G>T	c.(1219-1221)tGa>tTa	p.*407L	SERPINA5_ENST00000329597.7_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000553780.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000554276.1_Nonstop_Mutation_p.*407L|RP11-986E7.7_ENST00000553947.1_Intron			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	0					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AACCGCCCCTGAGGTGGGGCT	0.527																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1219-1221)tGa>tTa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						123.0	142.0	136.0					14																	95058575		2203	4300	6503	SO:0001578	stop_lost	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058575G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1220G>T	14.37:g.95058575G>T	ENSP00000451126:p.*407Leuext*15					SERPINA5_ENST00000554276.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000554866.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000553780.1_Nonstop_Mutation_p.*407L|SERPINA3_ENST00000553947.1_Intron	p.*407L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1430	+			0					Q07616|Q9UG30	Nonstop_Mutation	SNP	ENST00000554866.1	37	c.1220G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	7.539	0.660260	0.14645	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000537685;ENST00000438291;ENST00000554276	.	.	.	4.95	1.82	0.25136	.	.	.	.	.	.	.	.	.	.	.	0.32665	N	0.517541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0487	0.30564	0.0864:0.3025:0.6111:0.0	.	.	.	.	L	407;407;407;259;331;407	.	.	X	+	2	2	SERPINA5	94128328	0.019000	0.18553	0.126000	0.21872	0.024000	0.10985	0.429000	0.21412	0.714000	0.32081	-0.150000	0.13652	TGA		0.527	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		12	1178	1	0	6.40141e-05	1	6.7687e-05	12	1178				
OR4C15	81309	broad.mit.edu	37	11	55322061	55322061	+	Silent	SNP	C	C	A	rs368672576		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:55322061C>A	ENST00000314644.2	+	1	279	c.279C>A	c.(277-279)ggC>ggA	p.G93G		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGTTGGGGGCAACATGCTAA	0.433										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(277-279)ggC>ggA		olfactory receptor, family 4, subfamily C, member 15							155.0	133.0	140.0					11																	55322061		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322061C>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.279C>A	11.37:g.55322061C>A		HNSCC(20;0.049)					p.G93G	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	279	+			39					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.279C>A	CCDS31501.1																																																																																				0.433	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		6	434	1	0	2.7689e-08	1	3.0792e-08	6	434				
HNF1B	6928	broad.mit.edu	37	17	36065033	36065033	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:36065033C>A	ENST00000225893.4	-	6	1591	c.1230G>T	c.(1228-1230)ttG>ttT	p.L410F	HNF1B_ENST00000560016.1_Missense_Mutation_p.L410F|HNF1B_ENST00000561193.1_Missense_Mutation_p.L384F|HNF1B_ENST00000427275.2_Missense_Mutation_p.L384F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	410					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGACTGGGGGCAAACCTCCTC	0.488																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1228-1230)ttG>ttT		HNF1 homeobox B							142.0	131.0	135.0					17																	36065033		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36065033C>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1230G>T	17.37:g.36065033C>A	ENSP00000225893:p.Leu410Phe					HNF1B_ENST00000427275.2_Missense_Mutation_p.L384F|HNF1B_ENST00000561193.1_Missense_Mutation_p.L384F|HNF1B_ENST00000560016.1_Missense_Mutation_p.L410F	p.L410F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		6	1591	-		Breast(25;0.00765)|Ovarian(249;0.15)	410					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1230G>T	CCDS11324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748005|3.748005	0.69533|0.69533	.|.	.|.	ENSG00000108753|ENSG00000108753	ENST00000544593|ENST00000225893;ENST00000427275;ENST00000539087	.|D;D	.|0.99051	.|-5.37;-5.37	5.6|5.6	4.64|4.64	0.57946|0.57946	.|Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99077|0.99077	0.9683|0.9683	M|M	0.80746|0.80746	2.51|2.51	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.99605|0.99605	1.0979|1.0979	6|10	0.45353|0.59425	T|D	0.12|0.04	-21.2513|-21.2513	9.7322|9.7322	0.40368|0.40368	0.0:0.8439:0.0:0.1561|0.0:0.8439:0.0:0.1561	.|.	.|384;410	.|E0YMJ6;P35680	.|.;HNF1B_HUMAN	S|F	411|410;384;298	.|ENSP00000225893:L410F;ENSP00000412212:L384F	ENSP00000443448:A411S|ENSP00000225893:L410F	A|L	-|-	1|3	0|2	HNF1B|HNF1B	33139146|33139146	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	1.367000|1.367000	0.34204|0.34204	1.375000|1.375000	0.46248|0.46248	0.655000|0.655000	0.94253|0.94253	GCC|TTG		0.488	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		9	197	1	0	0.000274275	1	0.000280805	9	197				
PTGES	9536	broad.mit.edu	37	9	132502126	132502126	+	Missense_Mutation	SNP	C	C	T	rs200179410		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:132502126C>T	ENST00000340607.4	-	3	257	c.223G>A	c.(223-225)Gac>Aac	p.D75N	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	75	Glutathione binding.				acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTCTCCATGTCGTTCCGGTGG	0.572																																						ENST00000340607.4																			0				lung(1)|skin(1)	2						c.(223-225)Gac>Aac		prostaglandin E synthase							60.0	39.0	46.0					9																	132502126		2192	4291	6483	SO:0001583	missense	9536				prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity	g.chr9:132502126C>T	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.223G>A	9.37:g.132502126C>T	ENSP00000342385:p.Asp75Asn					PTGES_ENST00000481476.1_5'UTR	p.D75N	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN			3	257	-		Ovarian(14;0.00556)	75			Glutathione binding.		O14900|Q5SZC0	Missense_Mutation	SNP	ENST00000340607.4	37	c.223G>A	CCDS6927.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061297	0.93846	.	.	ENSG00000148344	ENST00000340607	T	0.57436	0.4	4.47	4.47	0.54385	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	10	0.87932	D	0	-45.6917	16.6593	0.85237	0.0:1.0:0.0:0.0	.	75	O14684	PTGES_HUMAN	N	75	ENSP00000342385:D75N	ENSP00000342385:D75N	D	-	1	0	PTGES	131541947	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.548000	0.82154	2.463000	0.83235	0.462000	0.41574	GAC		0.572	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		17	16	0	0	0	1	0	17	16				
EIF5A2	56648	broad.mit.edu	37	3	170612210	170612210	+	Silent	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr3:170612210C>A	ENST00000295822.2	-	4	458	c.273G>T	c.(271-273)ctG>ctT	p.L91L	EIF5A2_ENST00000474096.1_Intron|EIF5A2_ENST00000487522.1_Intron|EIF5A2_ENST00000460117.1_5'UTR	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	91					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			GAATGCATATCAGCTATTAGA	0.343																																						ENST00000295822.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(271-273)ctG>ctT		eukaryotic translation initiation factor 5A2							115.0	115.0	115.0					3																	170612210		2203	4300	6503	SO:0001819	synonymous_variant	56648				mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	g.chr3:170612210C>A	AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.273G>T	3.37:g.170612210C>A						EIF5A2_ENST00000487522.1_Intron|EIF5A2_ENST00000474096.1_Intron|EIF5A2_ENST00000460117.1_5'UTR	p.L91L	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)		4	458	-	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		91					B2R4V5	Silent	SNP	ENST00000295822.2	37	c.273G>T	CCDS3214.1																																																																																				0.343	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352681.1			4	199	1	0	0.00024832	1	0.000258333	4	199				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	231	0	0	0	1	0	5	231				
KDM2A	22992	broad.mit.edu	37	11	67018081	67018081	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:67018081G>A	ENST00000529006.2	+	17	3026	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	KDM2A_ENST00000308783.5_Silent_p.E318E|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	860					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						aggaggaagaggaggaggagg	0.657																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)gaG>gaA		lysine (K)-specific demethylase 2A							23.0	27.0	26.0					11																	67018081		2111	4226	6337	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018081G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2580G>A	11.37:g.67018081G>A						KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000308783.5_Silent_p.E318E	p.E860E	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3026	+			860					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.2580G>A	CCDS44657.1																																																																																				0.657	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		4	82	0	0	0	1	0	4	82				
FSCN3	29999	broad.mit.edu	37	7	127235710	127235710	+	Missense_Mutation	SNP	G	G	A	rs143868079		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:127235710G>A	ENST00000265825.5	+	2	713	c.494G>A	c.(493-495)cGc>cAc	p.R165H	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.R31H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	165						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACTATGGGCCGCATCTGGGTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16567	0.001		0.0	False		,,,				2504	0.0					ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(493-495)cGc>cAc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	101.0	108.0		494	5.6	0.7	7	dbSNP_134	108	0,8600		0,0,4300	no	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	165/499	127235710	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235710G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.494G>A	7.37:g.127235710G>A	ENSP00000265825:p.Arg165His					FSCN3_ENST00000420086.2_Missense_Mutation_p.R31H	p.R165H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	713	+			165					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.494G>A	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.4	4.529020	0.85706	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.46819	1.47;0.86	5.58	5.58	0.84498	Actin cross-linking (1);	0.203235	0.35124	N	0.003431	T	0.42471	0.1204	N	0.22421	0.69	0.39348	D	0.965697	D;D	0.63046	0.992;0.992	P;P	0.47603	0.551;0.475	T	0.46582	-0.9181	10	0.72032	D	0.01	-3.3147	15.4359	0.75146	0.0:0.0:1.0:0.0	.	31;165	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	165;31	ENSP00000265825:R165H;ENSP00000412243:R31H	ENSP00000265825:R165H	R	+	2	0	FSCN3	127022946	0.815000	0.29118	0.719000	0.30619	0.986000	0.74619	4.339000	0.59322	2.788000	0.95919	0.650000	0.86243	CGC		0.612	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		6	388	0	0	0	1	0	6	388				
TLL1	7092	broad.mit.edu	37	4	166946577	166946577	+	Silent	SNP	G	G	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:166946577G>T	ENST00000061240.2	+	9	1799	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	TLL1_ENST00000513213.1_Silent_p.G384G|TLL1_ENST00000507499.1_Silent_p.G384G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	384	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGACCCCAGGGGAGAAGGTAG	0.388																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1150-1152)ggG>ggT		tolloid-like 1							83.0	81.0	82.0					4																	166946577		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166946577G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1152G>T	4.37:g.166946577G>T						TLL1_ENST00000513213.1_Silent_p.G384G|TLL1_ENST00000507499.1_Silent_p.G384G	p.G384G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	9	1799	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	384			CUB 1.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.1152G>T	CCDS3811.1																																																																																				0.388	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			133	161	1	0	5.75948e-69	1	6.69346e-69	133	161				
INSRR	3645	broad.mit.edu	37	1	156812204	156812204	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:156812204G>A	ENST00000368195.3	-	18	3619	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1075	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTCAGGCCGCAAAGATCGA	0.602																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3223-3225)Cgg>Tgg		insulin receptor-related receptor							100.0	101.0	100.0					1																	156812204		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156812204G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3223C>T	1.37:g.156812204G>A	ENSP00000357178:p.Arg1075Trp					NTRK1_ENST00000392302.2_Intron	p.R1075W	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			18	3619	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1075			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3223C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217532	0.58560	.	.	ENSG00000027644	ENST00000368195	D	0.89810	-2.57	4.58	-2.37	0.06643	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000694	D	0.89602	0.6762	.	.	.	0.51012	D	0.9999	D	0.89917	1.0	P	0.56788	0.806	D	0.90761	0.4665	9	0.87932	D	0	.	15.295	0.73898	0.0:0.0:0.2005:0.7995	.	1075	P14616	INSRR_HUMAN	W	1075	ENSP00000357178:R1075W	ENSP00000357178:R1075W	R	-	1	2	INSRR	155078828	0.791000	0.28800	0.738000	0.30950	0.990000	0.78478	0.870000	0.28010	-0.175000	0.10725	-0.314000	0.08810	CGG		0.602	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		5	277	0	0	0	1	0	5	277				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	6	182	0	0	0	1	0	6	182				
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		4	243	0	0	0	1	0	4	243				
PBRM1	55193	broad.mit.edu	37	3	52598121	52598121	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr3:52598121A>C	ENST00000296302.7	-	23	3821	c.3820T>G	c.(3820-3822)Ttg>Gtg	p.L1274V	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1274V|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1249V|PBRM1_ENST00000356770.4_Missense_Mutation_p.L1242V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1274V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1289V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1249V|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1289V			Q86U86	PB1_HUMAN	polybromo 1	1274					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACCTCTTCAATCCTTTGAAT	0.393			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3724-3726)Ttg>Gtg		polybromo 1							117.0	114.0	115.0					3																	52598121		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598121A>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3820T>G	3.37:g.52598121A>C	ENSP00000296302:p.Leu1274Val					PBRM1_ENST00000409767.1_Missense_Mutation_p.L1289V|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1274V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1274V|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1249V|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1274V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1249V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1289V	p.L1242V			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3726	-			1274			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3724T>G		.	.	.	.	.	.	.	.	.	.	A	14.70	2.612860	0.46631	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.46451	0.9;1.18;0.93;0.87;0.91;1.17;1.36;0.89;0.91	5.05	-0.466	0.12153	.	0.000000	0.64402	D	0.000002	T	0.56659	0.2000	M	0.69358	2.11	0.36378	D	0.861764	D;D;D;D;D;D;D;D	0.76494	0.998;0.974;0.998;0.996;0.999;0.999;0.998;0.996	D;D;D;D;D;D;D;D	0.85130	0.99;0.969;0.99;0.978;0.997;0.991;0.99;0.986	T	0.63756	-0.6565	10	0.72032	D	0.01	-5.8392	10.4444	0.44486	0.4616:0.0:0.5384:0.0	.	1249;1249;1274;1289;1289;1274;1242;1274	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	V	1242;1249;1274;1274;1274;1249;1289;1289;1273	ENSP00000349213:L1242V;ENSP00000378307:L1249V;ENSP00000296302:L1274V;ENSP00000338302:L1274V;ENSP00000386593:L1274V;ENSP00000386529:L1249V;ENSP00000386643:L1289V;ENSP00000386601:L1289V;ENSP00000387775:L1273V	ENSP00000296302:L1274V	L	-	1	2	PBRM1	52573161	0.997000	0.39634	0.955000	0.39395	0.990000	0.78478	2.349000	0.44054	0.107000	0.17824	-0.177000	0.13119	TTG		0.393	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		63	205	0	0	0	1	0	63	205				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		5	309	0	0	0	1	0	5	309				
FUT6	2528	broad.mit.edu	37	19	5831898	5831898	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:5831898G>A	ENST00000318336.4	-	3	1875	c.681C>T	c.(679-681)ccC>ccT	p.P227P	FUT6_ENST00000527106.1_Silent_p.P227P|FUT6_ENST00000286955.5_Silent_p.P227P|FUT6_ENST00000524754.1_Silent_p.P227P|FUT6_ENST00000592563.1_Silent_p.P227P	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	227					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CCTGGGGCAGGGGCTTGTGGG	0.612																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(679-681)ccC>ccT		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							130.0	123.0	125.0					19																	5831898		2203	4300	6503	SO:0001819	synonymous_variant	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831898G>A		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.681C>T	19.37:g.5831898G>A						FUT6_ENST00000592563.1_Silent_p.P227P|FUT6_ENST00000527106.1_Silent_p.P227P|FUT6_ENST00000524754.1_Silent_p.P227P|FUT6_ENST00000286955.5_Silent_p.P227P	p.P227P	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1875	-			227					A6NEX0|D6W637|Q9UND8	Silent	SNP	ENST00000318336.4	37	c.681C>T	CCDS12152.1																																																																																				0.612	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		73	628	0	0	0	1	0	73	628				
ZNF224	7767	broad.mit.edu	37	19	44611966	44611966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:44611966G>A	ENST00000336976.6	+	6	1907	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	551					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTTTTGGCTGGGCCTCGTGTC	0.413																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(1651-1653)tgG>tgA		zinc finger protein 224							97.0	92.0	94.0					19																	44611966		2203	4300	6503	SO:0001587	stop_gained	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44611966G>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1653G>A	19.37:g.44611966G>A	ENSP00000337368:p.Trp551*					AC084219.4_ENST00000592946.1_RNA	p.W551*	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	1907	+		Prostate(69;0.0435)	551					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Nonsense_Mutation	SNP	ENST00000336976.6	37	c.1653G>A	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	36	5.647923	0.96714	.	.	ENSG00000186019	ENST00000336976	.	.	.	2.93	0.548	0.17208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.217	0.15348	0.0:0.4164:0.378:0.2056	.	.	.	.	X	551	.	ENSP00000337368:W551X	W	+	3	0	ZNF224	49303806	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.318000	0.08050	0.468000	0.27243	0.591000	0.81541	TGG		0.413	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		121	390	0	0	0	1	0	121	390				
LRRC7	57554	broad.mit.edu	37	1	70303923	70303923	+	Missense_Mutation	SNP	C	C	T	rs375015731		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:70303923C>T	ENST00000035383.5	+	5	520	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	LRRC7_ENST00000310961.5_Missense_Mutation_p.R169W|LRRC7_ENST00000370958.1_Missense_Mutation_p.R202W|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	164						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGTCAAATTGCGGATCTTGGA	0.299																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(505-507)Cgg>Tgg		leucine rich repeat containing 7							70.0	74.0	73.0					1																	70303923		2203	4296	6499	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70303923C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.490C>T	1.37:g.70303923C>T	ENSP00000035383:p.Arg164Trp					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.R202W|LRRC7_ENST00000035383.5_Missense_Mutation_p.R164W	p.R169W			Q96NW7	LRRC7_HUMAN			8	923	+			164					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.505C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576348	0.45902	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.55234	2.76;0.53;2.76	5.67	3.77	0.43336	.	0.063497	0.64402	D	0.000010	T	0.61060	0.2317	M	0.72353	2.195	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.70227	0.968;0.93	T	0.67086	-0.5759	10	0.72032	D	0.01	.	13.4324	0.61064	0.4073:0.5927:0.0:0.0	.	164;202	Q96NW7;B1AKT2	LRRC7_HUMAN;.	W	169;202;164;164	ENSP00000309245:R169W;ENSP00000359997:R202W;ENSP00000035383:R164W	ENSP00000035383:R164W	R	+	1	2	LRRC7	70076511	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	2.872000	0.48467	0.731000	0.32448	-0.321000	0.08615	CGG		0.299	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		9	141	0	0	0	1	0	9	141				
HSD17B7	51478	broad.mit.edu	37	1	162769621	162769621	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:162769621T>G	ENST00000254521.3	+	5	591	c.536T>G	c.(535-537)tTc>tGc	p.F179C	HSD17B7_ENST00000367917.3_Missense_Mutation_p.F179C|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	179					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					AAATCTAATTTCAGCCTCGAG	0.488																																						ENST00000367917.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(535-537)tTc>tGc		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						68.0	62.0	64.0					1																	162769621		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769621T>G	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.536T>G	1.37:g.162769621T>G	ENSP00000254521:p.Phe179Cys					HSD17B7_ENST00000254521.3_Missense_Mutation_p.F179C|HSD17B7_ENST00000485405.1_3'UTR	p.F179C			P56937	DHB7_HUMAN			5	604	+	all_hematologic(112;0.115)		179					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.536T>G	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062364	0.76187	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.79940	2.95;-1.32;2.95	4.44	4.44	0.53790	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	M	0.82517	2.595	0.40354	D	0.979169	D	0.89917	1.0	D	0.81914	0.995	D	0.89764	0.3949	9	0.87932	D	0	-15.6945	12.6443	0.56725	0.0:0.0:0.0:1.0	.	179	P56937	DHB7_HUMAN	C	179;179;32	ENSP00000356894:F179C;ENSP00000254521:F179C;ENSP00000412146:F32C	ENSP00000254521:F179C	F	+	2	0	HSD17B7	161036245	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.645000	0.83430	1.841000	0.53522	0.528000	0.53228	TTC		0.488	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		110	15	0	0	0	1	0	110	15				
GRID2	2895	broad.mit.edu	37	4	93511319	93511319	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:93511319G>T	ENST00000282020.4	+	2	384	c.126G>T	c.(124-126)gaG>gaT	p.E42D	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.E42D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	42					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGGATGATGAGGTATTTCGCA	0.378																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(124-126)gaG>gaT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						117.0	112.0	114.0					4																	93511319		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:93511319G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.126G>T	4.37:g.93511319G>T	ENSP00000282020:p.Glu42Asp					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.E42D	p.E42D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	2	384	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	42					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.126G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076582	0.55753	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.86164	-1.75;-2.08	5.83	4.98	0.66077	Extracellular ligand-binding receptor (1);	1.095540	0.07001	N	0.823314	D	0.88926	0.6570	L	0.29908	0.895	0.26723	N	0.970735	P;D	0.63046	0.956;0.992	D;D	0.77004	0.931;0.989	T	0.76085	-0.3088	10	0.40728	T	0.16	.	6.5961	0.22674	0.3089:0.0:0.6911:0.0	.	42;42	E9PH24;O43424	.;GRID2_HUMAN	D	42	ENSP00000282020:E42D;ENSP00000421257:E42D	ENSP00000282020:E42D	E	+	3	2	GRID2	93730342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.566000	0.45948	1.440000	0.47531	0.563000	0.77884	GAG		0.378	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			14	557	1	0	2.32078e-09	1	2.60331e-09	14	557				
USP28	57646	broad.mit.edu	37	11	113679043	113679043	+	Missense_Mutation	SNP	C	C	T	rs143699311		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:113679043C>T	ENST00000003302.4	-	18	2349	c.2281G>A	c.(2281-2283)Ggt>Agt	p.G761S	USP28_ENST00000545540.1_Missense_Mutation_p.G636S|USP28_ENST00000544967.1_Missense_Mutation_p.G469S|USP28_ENST00000260188.5_Missense_Mutation_p.G761S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	761					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G761S(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCTTCTACACCGCTCTTCTCA	0.522																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			1	Substitution - Missense(1)	p.G761S(1)	prostate(1)	breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2281-2283)Ggt>Agt		ubiquitin specific peptidase 28		C	SER/GLY	1,4401	2.1+/-5.4	0,1,2200	171.0	164.0	167.0		2281	5.4	0.5	11	dbSNP_134	167	0,8592		0,0,4296	no	missense	USP28	NM_020886.2	56	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	761/1078	113679043	1,12993	2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113679043C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2281G>A	11.37:g.113679043C>T	ENSP00000003302:p.Gly761Ser					USP28_ENST00000545540.1_Missense_Mutation_p.G636S|USP28_ENST00000260188.5_Missense_Mutation_p.G761S|USP28_ENST00000544967.1_Missense_Mutation_p.G469S	p.G761S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	18	2349	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	761					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2281G>A	CCDS31680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.81|16.81	3.227204|3.227204	0.58668|0.58668	2.27E-4|2.27E-4	0.0|0.0	ENSG00000048028|ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540|ENST00000538224	T;T;T;T|.	0.50277|.	1.55;1.31;0.75;1.33|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.604154|.	0.18840|.	N|.	0.129709|.	T|T	0.57446|0.57446	0.2054|0.2054	N|N	0.25890|0.25890	0.77|0.77	0.58432|0.58432	D|D	0.999997|0.999997	B;D;P|.	0.76494|.	0.021;0.999;0.804|.	B;P;B|.	0.57679|.	0.002;0.825;0.336|.	T|T	0.50406|0.50406	-0.8832|-0.8832	10|5	0.18710|.	T|.	0.47|.	-11.9395|-11.9395	19.2891|19.2891	0.94092|0.94092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;761;469|.	B4E3L3;Q96RU2;G3V1N5|.	.;UBP28_HUMAN;.|.	S|Q	761;761;469;636|77	ENSP00000003302:G761S;ENSP00000260188:G761S;ENSP00000442431:G469S;ENSP00000444991:G636S|.	ENSP00000003302:G761S|.	G|R	-|-	1|2	0|0	USP28|USP28	113184253|113184253	0.996000|0.996000	0.38824|0.38824	0.502000|0.502000	0.27614|0.27614	0.329000|0.329000	0.28539|0.28539	5.473000|5.473000	0.66774|0.66774	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.522	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			427	94	0	0	0	1	0	427	94				
PTPN13	5783	broad.mit.edu	37	4	87680211	87680211	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:87680211G>A	ENST00000411767.2	+	23	3601	c.3538G>A	c.(3538-3540)Gaa>Aaa	p.E1180K	PTPN13_ENST00000316707.6_Missense_Mutation_p.E989K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1180K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1161K|PTPN13_ENST00000436978.1_Missense_Mutation_p.E1180K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1180					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGCCAAAAGAAAAGATATC	0.373																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(3538-3540)Gaa>Aaa		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							80.0	81.0	81.0					4																	87680211		2001	4190	6191	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87680211G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3538G>A	4.37:g.87680211G>A	ENSP00000407249:p.Glu1180Lys					PTPN13_ENST00000427191.2_Missense_Mutation_p.E1161K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1180K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E989K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1180K	p.E1180K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	23	4018	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1180					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.3538G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786384	0.90367	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.42	5.42	0.78866	PDZ/DHR/GLGF (1);	0.000000	0.51477	D	0.000084	T	0.60261	0.2255	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.971;0.997;1.0;1.0	P;D;D;D	0.87578	0.783;0.973;0.998;0.997	T	0.54912	-0.8222	10	0.35671	T	0.21	.	19.5856	0.95488	0.0:0.0:1.0:0.0	.	989;1161;1180;1180	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	1161;1180;989;1180;1180;1129	ENSP00000408368:E1161K;ENSP00000394794:E1180K;ENSP00000322675:E989K;ENSP00000407249:E1180K;ENSP00000426626:E1180K	ENSP00000322675:E989K	E	+	1	0	PTPN13	87899235	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.851000	0.69481	2.693000	0.91896	0.585000	0.79938	GAA		0.373	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	191	0	0	0	1	0	6	191				
SIRT2	22933	broad.mit.edu	37	19	39380781	39380781	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:39380781C>T	ENST00000249396.7	-	5	531	c.230G>A	c.(229-231)cGc>cAc	p.R77H	SIRT2_ENST00000358931.5_Missense_Mutation_p.R77H|SIRT2_ENST00000392081.2_Missense_Mutation_p.R40H	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	77	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GATGACTCTGCGACCTGGAGG	0.557																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(229-231)cGc>cAc		sirtuin 2							112.0	86.0	95.0					19																	39380781		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39380781C>T	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.230G>A	19.37:g.39380781C>T	ENSP00000249396:p.Arg77His					SIRT2_ENST00000358931.5_Missense_Mutation_p.R77H|SIRT2_ENST00000392081.2_Missense_Mutation_p.R40H	p.R77H	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		5	531	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		77			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.230G>A	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117605	0.56505	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766;ENST00000437828;ENST00000447739	T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.21	2.92	0.33932	.	0.314266	0.32518	N	0.005995	T	0.19167	0.0460	M	0.65320	2	0.42590	D	0.993244	P;P;B;P	0.51791	0.742;0.742;0.211;0.948	B;B;B;B	0.41466	0.328;0.229;0.005;0.358	T	0.03662	-1.1015	10	0.72032	D	0.01	-21.7422	4.7118	0.12875	0.0:0.6433:0.0:0.3567	.	77;40;77;57	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	H	77;40;77;62;40;40;40;40;40	ENSP00000249396:R77H;ENSP00000375931:R40H;ENSP00000351809:R77H;ENSP00000404309:R40H;ENSP00000385146:R40H;ENSP00000401203:R40H;ENSP00000397022:R40H;ENSP00000408023:R40H	ENSP00000249396:R77H	R	-	2	0	SIRT2	44072621	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.265000	0.43311	1.201000	0.43203	-0.291000	0.09656	CGC		0.557	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			4	264	0	0	0	1	0	4	264				
IKBIP	121457	broad.mit.edu	37	12	99007736	99007736	+	Missense_Mutation	SNP	G	G	A	rs199829512	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:99007736G>A	ENST00000342502.2	-	3	1091	c.680C>T	c.(679-681)aCg>aTg	p.T227M	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.T121M	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	227					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTTCGGAGCGTTGCTGTTCG	0.333													G|||	3	0.000599042	0.0	0.0	5008	,	,		19736	0.0		0.0	False		,,,				2504	0.0031					ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(679-681)aCg>aTg		IKBKB interacting protein		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	91.0	87.0	88.0		680,	-3.6	0.5	12		88	0,8600		0,0,4300	yes	missense,utr-3	IKBIP	NM_201612.1,NM_201613.1	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	227/351,	99007736	1,13003	2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007736G>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.680C>T	12.37:g.99007736G>A	ENSP00000343471:p.Thr227Met					IKBIP_ENST00000420861.1_Missense_Mutation_p.T121M|IKBIP_ENST00000393042.3_3'UTR	p.T227M	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN			3	1091	-			227					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.680C>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259706	0.23051	2.27E-4	0.0	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.44083	0.94;0.93	5.24	-3.64	0.04515	.	.	.	.	.	T	0.14614	0.0353	N	0.02011	-0.69	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.20240	-1.0281	9	0.45353	T	0.12	.	6.143	0.20271	0.2018:0.0:0.431:0.3672	.	227	Q70UQ0	IKIP_HUMAN	M	227;121	ENSP00000343471:T227M;ENSP00000398023:T121M	ENSP00000343471:T227M	T	-	2	0	IKBIP	97531867	0.000000	0.05858	0.480000	0.27341	0.914000	0.54420	-0.141000	0.10327	-0.257000	0.09459	-0.302000	0.09304	ACG		0.333	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		19	416	0	0	0	1	0	19	416				
ESRRB	2103	broad.mit.edu	37	14	76905998	76905998	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:76905998G>A	ENST00000509242.1	+	3	400	c.302G>A	c.(301-303)cGc>cAc	p.R101H	ESRRB_ENST00000380887.2_Missense_Mutation_p.R101H|ESRRB_ENST00000556177.1_Missense_Mutation_p.R101H|ESRRB_ENST00000261532.7_Missense_Mutation_p.R101H|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	101					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCCCCAAGCGCCTGTGCCTC	0.622																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(301-303)cGc>cAc		estrogen-related receptor beta							64.0	59.0	61.0					14																	76905998		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905998G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.302G>A	14.37:g.76905998G>A	ENSP00000422488:p.Arg101His					ESRRB_ENST00000509242.1_Missense_Mutation_p.R101H|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.R101H|ESRRB_ENST00000261532.7_Missense_Mutation_p.R101H	p.R101H			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	374	+			101					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.302G>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	34	5.331505	0.95733	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97506	1.0063	10	0.37606	T	0.19	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	101;106	Q5F0P7;E7EWD9	.;.	H	106;101;101;101;101	ENSP00000424992:R106H;ENSP00000422488:R101H;ENSP00000451658:R101H;ENSP00000370270:R101H;ENSP00000261532:R101H	ENSP00000261532:R101H	R	+	2	0	ESRRB	75975751	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.818000	0.99354	2.377000	0.81083	0.655000	0.94253	CGC		0.622	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			101	100	0	0	0	1	0	101	100				
COL5A3	50509	broad.mit.edu	37	19	10084482	10084482	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:10084482T>C	ENST00000264828.3	-	49	3647	c.3562A>G	c.(3562-3564)Act>Gct	p.T1188A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1188	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCCCTGGAGTGCCCTGGAGA	0.597																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3562-3564)Act>Gct		collagen, type V, alpha 3							74.0	83.0	80.0					19																	10084482		2203	4299	6502	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10084482T>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3562A>G	19.37:g.10084482T>C	ENSP00000264828:p.Thr1188Ala						p.T1188A	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		49	3647	-			1188			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3562A>G	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375218	0.24857	.	.	ENSG00000080573	ENST00000264828	D	0.94000	-3.33	4.55	-5.39	0.02664	.	0.659674	0.13547	U	0.379767	T	0.73194	0.3556	N	0.02247	-0.625	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.68577	-0.5372	10	0.18276	T	0.48	.	0.6294	0.00791	0.3312:0.1132:0.1884:0.3673	.	1188	P25940	CO5A3_HUMAN	A	1188	ENSP00000264828:T1188A	ENSP00000264828:T1188A	T	-	1	0	COL5A3	9945482	0.000000	0.05858	0.496000	0.27539	0.531000	0.34715	-0.172000	0.09868	-0.398000	0.07679	-0.669000	0.03829	ACT		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		274	294	0	0	0	1	0	274	294				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	33	0	0	0	1	0	5	33				
MYH8	4626	broad.mit.edu	37	17	10298537	10298537	+	Silent	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:10298537C>A	ENST00000403437.2	-	34	4969	c.4875G>T	c.(4873-4875)ctG>ctT	p.L1625L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1625					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCATTTCATTCAGATCTCCTT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4873-4875)ctG>ctT		myosin, heavy chain 8, skeletal muscle, perinatal							297.0	262.0	274.0					17																	10298537		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298537C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4875G>T	17.37:g.10298537C>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L1625L	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			34	4969	-			1625					Q14910	Silent	SNP	ENST00000403437.2	37	c.4875G>T	CCDS11153.1																																																																																				0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	686	1	0	2.0095e-06	1	2.2156e-06	7	686				
CACNA1B	774	broad.mit.edu	37	9	140880925	140880925	+	Silent	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:140880925C>A	ENST00000371372.1	+	14	1975	c.1830C>A	c.(1828-1830)atC>atA	p.I610I	CACNA1B_ENST00000277551.2_Silent_p.I610I|CACNA1B_ENST00000371357.1_Silent_p.I611I|CACNA1B_ENST00000371355.4_Silent_p.I611I|CACNA1B_ENST00000371363.1_Silent_p.I610I|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	610					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTCCATCATCAGCCTGCTCT	0.617																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1828-1830)atC>atA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						73.0	79.0	77.0					9																	140880925		2138	4261	6399	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140880925C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1830C>A	9.37:g.140880925C>A						CACNA1B_ENST00000371355.4_Silent_p.I611I|CACNA1B_ENST00000371357.1_Silent_p.I611I|CACNA1B_ENST00000277551.2_Silent_p.I610I|CACNA1B_ENST00000371363.1_Silent_p.I610I|CACNA1B_ENST00000277549.5_5'UTR	p.I610I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	14	1975	+	all_cancers(76;0.166)		610					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.1830C>A	CCDS59522.1																																																																																				0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		60	83	1	0	3.00387e-57	1	3.45982e-57	60	83				
DNMT1	1786	broad.mit.edu	37	19	10267152	10267152	+	Silent	SNP	G	G	A	rs201487376		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:10267152G>A	ENST00000340748.4	-	17	1501	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	DNMT1_ENST00000540357.1_Silent_p.I422I|DNMT1_ENST00000359526.4_Silent_p.I438I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	422	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGCCGGTGTCGATGGGACACA	0.483																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1264-1266)atC>atT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						114.0	97.0	103.0					19																	10267152		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10267152G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1266C>T	19.37:g.10267152G>A						DNMT1_ENST00000540357.1_Silent_p.I422I|DNMT1_ENST00000359526.4_Silent_p.I438I	p.I422I			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		17	1501	-			422			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.1266C>T	CCDS12228.1																																																																																				0.483	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	351	0	0	0	1	0	5	351				
NCOA5	57727	broad.mit.edu	37	20	44699006	44699006	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:44699006G>A	ENST00000290231.6	-	3	372	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	70	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R70W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGTGATCCCGCAAATCTCTA	0.562																																						ENST00000290231.6																			1	Substitution - Missense(1)	p.R70W(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(208-210)Cgg>Tgg		nuclear receptor coactivator 5							136.0	132.0	133.0					20																	44699006		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699006G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.208C>T	20.37:g.44699006G>A	ENSP00000290231:p.Arg70Trp						p.R70W	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			3	372	-		Myeloproliferative disorder(115;0.0122)	70			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.208C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221434	0.58560	.	.	ENSG00000124160	ENST00000290231	T	0.55413	0.52	4.93	3.92	0.45320	.	0.191464	0.47852	D	0.000203	T	0.70395	0.3219	M	0.78049	2.395	0.44098	D	0.996864	D	0.89917	1.0	D	0.80764	0.994	T	0.73209	-0.4055	10	0.59425	D	0.04	-0.475	12.5287	0.56102	0.0:0.0:0.7888:0.2112	.	70	Q9HCD5	NCOA5_HUMAN	W	70	ENSP00000290231:R70W	ENSP00000290231:R70W	R	-	1	2	NCOA5	44132413	0.996000	0.38824	0.996000	0.52242	0.978000	0.69477	2.080000	0.41586	2.568000	0.86640	0.650000	0.86243	CGG		0.562	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		6	766	0	0	0	1	0	6	766				
LAMA2	3908	broad.mit.edu	37	6	129828687	129828687	+	Silent	SNP	T	T	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:129828687T>A	ENST00000421865.2	+	62	8806	c.8757T>A	c.(8755-8757)ccT>ccA	p.P2919P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2919	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGAGGCCCCTGCCGATCTGG	0.478																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8755-8757)ccT>ccA		laminin, alpha 2							134.0	124.0	127.0					6																	129828687		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129828687T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8757T>A	6.37:g.129828687T>A							p.P2919P	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	62	8806	+			2919			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.8757T>A	CCDS5138.1																																																																																				0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			61	429	0	0	0	1	0	61	429				
KLK10	5655	broad.mit.edu	37	19	51518155	51518155	+	Silent	SNP	C	C	T	rs138296032	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:51518155C>T	ENST00000309958.3	-	6	950	c.732G>A	c.(730-732)tcG>tcA	p.S244S	CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Silent_p.S244S|CTB-147C22.9_ENST00000594512.1_RNA|KLK10_ENST00000391805.1_Silent_p.S244S	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	244	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AAACACCCCACGAGAGGATGC	0.537																																						ENST00000309958.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(730-732)tcG>tcA		kallikrein-related peptidase 10							83.0	77.0	79.0					19																	51518155		2203	4300	6503	SO:0001819	synonymous_variant	5655				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51518155C>T	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.732G>A	19.37:g.51518155C>T						KLK10_ENST00000391805.1_Silent_p.S244S|KLK10_ENST00000358789.3_Silent_p.S244S	p.S244S	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	6	950	-		all_neural(266;0.026)	244			Peptidase S1.		A6NC12|Q53YL3|Q99920|Q9GZW9	Silent	SNP	ENST00000309958.3	37	c.732G>A	CCDS12817.1																																																																																				0.537	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		21	305	0	0	0	1	0	21	305				
FRYL	285527	broad.mit.edu	37	4	48621345	48621345	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:48621345C>G	ENST00000503238.1	-	4	356	c.357G>C	c.(355-357)agG>agC	p.R119S	FRYL_ENST00000507711.1_Missense_Mutation_p.R119S|FRYL_ENST00000537810.1_Missense_Mutation_p.R119S|FRYL_ENST00000358350.4_Missense_Mutation_p.R119S|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTAAGTCCCTCCTTTCAA	0.328																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(355-357)agG>agC		FRY-like							163.0	150.0	154.0					4																	48621345		1833	4088	5921	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48621345C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.357G>C	4.37:g.48621345C>G	ENSP00000426064:p.Arg119Ser					FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.R119S|FRYL_ENST00000503238.1_Missense_Mutation_p.R119S|FRYL_ENST00000507711.1_Missense_Mutation_p.R119S	p.R119S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			7	961	-			119					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.357G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755403	0.69648	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.64618	-0.11;-0.11;-0.11;0.38	5.87	1.73	0.24493	.	0.000000	0.64402	U	0.000001	T	0.74943	0.3783	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;0.985;0.996	D;D;D	0.85130	0.997;0.977;0.968	T	0.72724	-0.4207	10	0.87932	D	0	.	7.9332	0.29914	0.0:0.4914:0.0:0.5086	.	170;119;119	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	S	119	ENSP00000426064:R119S;ENSP00000351113:R119S;ENSP00000441114:R119S;ENSP00000421584:R119S	ENSP00000351113:R119S	R	-	3	2	FRYL	48316102	0.996000	0.38824	0.999000	0.59377	0.968000	0.65278	0.480000	0.22244	0.055000	0.16094	-0.982000	0.02568	AGG		0.328	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			13	276	0	0	0	1	0	13	276				
RIN2	54453	broad.mit.edu	37	20	19955543	19955543	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:19955543A>G	ENST00000255006.6	+	8	1170	c.1021A>G	c.(1021-1023)Agc>Ggc	p.S341G	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	292					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAAACGGCCGAGCACAAGGAC	0.612																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1021-1023)Agc>Ggc		Ras and Rab interactor 2							54.0	57.0	56.0					20																	19955543		1900	4112	6012	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955543A>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1021A>G	20.37:g.19955543A>G	ENSP00000255006:p.Ser341Gly					RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	p.S341G	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1170	+			292					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1021A>G	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	9.258	1.042598	0.19748	.	.	ENSG00000132669	ENST00000255006	T	0.23950	1.88	5.59	0.836	0.18891	.	0.525914	0.22843	N	0.054955	T	0.18718	0.0449	L	0.54323	1.7	0.80722	D	1	B	0.21606	0.058	B	0.20767	0.031	T	0.07347	-1.0777	9	.	.	.	-6.5879	3.9026	0.09167	0.4993:0.0:0.2229:0.2778	.	292	Q8WYP3	RIN2_HUMAN	G	341	ENSP00000255006:S341G	.	S	+	1	0	RIN2	19903543	0.976000	0.34144	0.985000	0.45067	0.982000	0.71751	0.581000	0.23819	-0.125000	0.11703	0.533000	0.62120	AGC		0.612	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			36	187	0	0	0	1	0	36	187				
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(181-183)ctG>ctA		slowmo homolog 2 (Drosophila)							89.0	86.0	87.0					20																	57613539		1899	4125	6024	SO:0001819	synonymous_variant	51012							g.chr20:57613539C>T	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.183G>A	20.37:g.57613539C>T						SLMO2_ENST00000371033.5_Silent_p.L61L	p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	361	-	all_lung(29;0.00711)		61			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Silent	SNP	ENST00000355937.4	37	c.183G>A	CCDS42893.1																																																																																				0.443	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		6	513	0	0	0	1	0	6	513				
HYDIN	54768	broad.mit.edu	37	16	71101257	71101257	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr16:71101257G>A	ENST00000393567.2	-	15	2161	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L	HYDIN_ENST00000538248.1_Silent_p.L698L|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000541601.1_Silent_p.L688L|HYDIN_ENST00000448691.1_Silent_p.L671L|HYDIN_ENST00000288168.10_Silent_p.L688L|HYDIN_ENST00000321489.5_Silent_p.L671L|HYDIN_ENST00000448089.2_Silent_p.L671L|HYDIN_ENST00000393550.2_Silent_p.L686L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	671					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACGAGTGCCAGCTCGTATTTC	0.532																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(2011-2013)Ctg>Ttg		HYDIN, axonemal central pair apparatus protein							77.0	66.0	70.0					16																	71101257		2198	4300	6498	SO:0001819	synonymous_variant	54768							g.chr16:71101257G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2011C>T	16.37:g.71101257G>A						HYDIN_ENST00000321489.5_Silent_p.L671L|HYDIN_ENST00000538248.1_Silent_p.L698L|HYDIN_ENST00000448089.2_Silent_p.L671L|HYDIN_ENST00000448691.1_Silent_p.L671L|HYDIN_ENST00000393550.2_Silent_p.L686L|HYDIN_ENST00000288168.10_Silent_p.L688L|HYDIN_ENST00000541601.1_Silent_p.L688L	p.L671L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			15	2161	-		Ovarian(137;0.0654)	671					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.2011C>T	CCDS59269.1																																																																																				0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	186	0	0	0	1	0	4	186				
GBF1	8729	broad.mit.edu	37	10	104120022	104120022	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:104120022G>A	ENST00000369983.3	+	12	1519	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	420					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACACGACCGCCATAACTCA	0.582																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1258-1260)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							270.0	266.0	267.0					10																	104120022		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104120022G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1259G>A	10.37:g.104120022G>A	ENSP00000359000:p.Arg420His					GBF1_ENST00000476019.1_Intron	p.R420H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	12	1519	+		Colorectal(252;0.0236)	420					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1259G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612547	0.96637	.	.	ENSG00000107862	ENST00000369983	T	0.42513	0.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.991;0.999	T	0.57723	-0.7762	10	0.35671	T	0.21	-12.3815	19.4065	0.94649	0.0:0.0:1.0:0.0	.	420;420;420	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	420	ENSP00000359000:R420H	ENSP00000359000:R420H	R	+	2	0	GBF1	104110012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.826000	0.99387	2.580000	0.87095	0.650000	0.86243	CGC		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			7	750	0	0	0	1	0	7	750				
MMRN1	22915	broad.mit.edu	37	4	90857513	90857513	+	Silent	SNP	T	T	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:90857513T>A	ENST00000394980.1	+	7	3001	c.2682T>A	c.(2680-2682)ctT>ctA	p.L894L	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.L894L|MMRN1_ENST00000508372.1_Silent_p.L636L			Q13201	MMRN1_HUMAN	multimerin 1	894					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATCAGGCTCTTCAACTGCAAG	0.358																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2680-2682)ctT>ctA		multimerin 1							58.0	61.0	60.0					4																	90857513		2201	4298	6499	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857513T>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2682T>A	4.37:g.90857513T>A						MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.L894L|MMRN1_ENST00000508372.1_Silent_p.L636L	p.L894L			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3001	+		Hepatocellular(203;0.114)	894					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2682T>A	CCDS3635.1																																																																																				0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		7	402	0	0	0	1	0	7	402				
APOL4	80832	broad.mit.edu	37	22	36587621	36587621	+	Silent	SNP	C	C	T	rs370797006		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr22:36587621C>T	ENST00000352371.1	-	6	779	c.555G>A	c.(553-555)ggG>ggA	p.G185G	APOL4_ENST00000332987.1_Silent_p.G182G|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	186					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						TGGAGGCGATCCCAGCCGTGG	0.552																																						ENST00000332987.1																			0				lung(1)	1						c.(544-546)ggG>ggA		apolipoprotein L, 4		C	,	0,4394		0,0,2197	62.0	60.0	61.0		547,556	-1.4	0.0	22		61	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	APOL4	NM_030643.3,NM_145660.1	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	183/349,186/352	36587621	1,12991	2197	4299	6496	SO:0001819	synonymous_variant	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587621C>T	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.555G>A	22.37:g.36587621C>T						APOL4_ENST00000352371.1_Silent_p.G185G|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR	p.G182G			Q9BPW4	APOL4_HUMAN			7	968	-			186					Q9BQ37|Q9BXQ8	Silent	SNP	ENST00000352371.1	37	c.546G>A																																																																																					0.552	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		38	60	0	0	0	1	0	38	60				
C1QTNF1	114897	broad.mit.edu	37	17	77042773	77042773	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:77042773A>G	ENST00000339142.2	+	4	847	c.292A>G	c.(292-294)Aaa>Gaa	p.K98E	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.K16E|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K108E|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.K98E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.K16E	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	98					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CACTATCTTGAAAGGTCAGAT	0.632											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(292-294)Aaa>Gaa		C1q and tumor necrosis factor related protein 1							68.0	69.0	69.0					17																	77042773		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77042773A>G	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.292A>G	17.37:g.77042773A>G	ENSP00000340864:p.Lys98Glu		OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000392445.2_Missense_Mutation_p.K98E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.K16E|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.K16E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K108E|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.K98E	p.K98E	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	847	+			98					Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.292A>G	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	a	23.8	4.458056	0.84317	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.92699	-3.09;-3.09;-3.09	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000003	D	0.95680	0.8595	M	0.85041	2.73	0.45930	D	0.998766	P;P;D	0.56035	0.792;0.792;0.974	P;P;D	0.63703	0.643;0.643;0.917	D	0.96162	0.9116	10	0.66056	D	0.02	.	13.7272	0.62765	1.0:0.0:0.0:0.0	.	108;108;98	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	E	98;16;108;98;108	ENSP00000340864:K98E;ENSP00000311265:K16E;ENSP00000343230:K108E	ENSP00000311265:K16E	K	+	1	0	C1QTNF1	74554368	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.392000	0.79840	1.873000	0.54277	0.454000	0.30748	AAA		0.632	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		27	419	0	0	0	1	0	27	419				
TENM2	57451	broad.mit.edu	37	5	167645603	167645603	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr5:167645603G>A	ENST00000518659.1	+	23	4746	c.4707G>A	c.(4705-4707)gcG>gcA	p.A1569A	TENM2_ENST00000520394.1_Silent_p.A1330A|TENM2_ENST00000545108.1_Silent_p.A1568A|TENM2_ENST00000519204.1_Silent_p.A1448A|TENM2_ENST00000403607.2_Silent_p.A1393A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1569					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGATCAGGGCGGTCAGCAAGA	0.493																																						ENST00000519204.1																			0											c.(4342-4344)gcG>gcA		teneurin transmembrane protein 2							162.0	156.0	158.0					5																	167645603		1966	4145	6111	SO:0001819	synonymous_variant	57451							g.chr5:167645603G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4707G>A	5.37:g.167645603G>A						TENM2_ENST00000403607.2_Silent_p.A1393A|TENM2_ENST00000518659.1_Silent_p.A1569A|TENM2_ENST00000520394.1_Silent_p.A1330A|TENM2_ENST00000545108.1_Silent_p.A1568A	p.A1448A							22	4462	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.4344G>A																																																																																					0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	942	0	0	0	1	0	6	942				
GAL3ST3	89792	broad.mit.edu	37	11	65810717	65810717	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:65810717G>A	ENST00000312006.4	-	3	838	c.557C>T	c.(556-558)gCg>gTg	p.A186V	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A186V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	186					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGCCTCGGGCGCGCGCAGGAA	0.677																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(556-558)gCg>gTg		galactose-3-O-sulfotransferase 3							33.0	37.0	35.0					11																	65810717		2201	4293	6494	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810717G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.557C>T	11.37:g.65810717G>A	ENSP00000308591:p.Ala186Val					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A186V	p.A186V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	838	-			186					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.557C>T	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691456	0.48097	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.15487	2.42;2.42	4.65	3.67	0.42095	.	0.623277	0.15977	N	0.235510	T	0.11452	0.0279	L	0.39898	1.24	0.25368	N	0.988729	B	0.34313	0.448	B	0.26517	0.07	T	0.15350	-1.0440	10	0.56958	D	0.05	-10.6257	5.3475	0.16018	0.1026:0.0:0.6951:0.2023	.	186	Q96A11	G3ST3_HUMAN	V	186	ENSP00000308591:A186V;ENSP00000434829:A186V	ENSP00000308591:A186V	A	-	2	0	GAL3ST3	65567293	0.996000	0.38824	1.000000	0.80357	0.941000	0.58515	3.910000	0.56371	2.304000	0.77564	0.561000	0.74099	GCG		0.677	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		5	121	0	0	0	1	0	5	121				
KIF27	55582	broad.mit.edu	37	9	86518491	86518491	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:86518491C>T	ENST00000297814.2	-	4	1085	c.942G>A	c.(940-942)atG>atA	p.M314I	KIF27_ENST00000413982.1_Missense_Mutation_p.M314I|KIF27_ENST00000334204.2_Missense_Mutation_p.M314I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CACATGTGATCATGACAGTCT	0.448																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(940-942)atG>atA		kinesin family member 27							81.0	82.0	82.0					9																	86518491		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518491C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.942G>A	9.37:g.86518491C>T	ENSP00000297814:p.Met314Ile					KIF27_ENST00000334204.2_Missense_Mutation_p.M314I|KIF27_ENST00000413982.1_Missense_Mutation_p.M314I	p.M314I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	1085	-			314					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.942G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858465	0.91433	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.75154	-0.91;-0.91;-0.91	5.8	5.8	0.92144	Kinesin, motor domain (3);	0.000000	0.64402	D	0.000001	D	0.85716	0.5761	M	0.65320	2	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.83275	0.991;0.996;0.994	D	0.86037	0.1517	10	0.87932	D	0	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	314;314;314	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	I	314	ENSP00000297814:M314I;ENSP00000401688:M314I;ENSP00000333928:M314I	ENSP00000297814:M314I	M	-	3	0	KIF27	85708311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.744000	0.94065	0.655000	0.94253	ATG		0.448	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		8	387	0	0	0	1	0	8	387				
PITPNM2	57605	broad.mit.edu	37	12	123472826	123472826	+	Silent	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:123472826C>T	ENST00000542749.1	-	18	3015	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K	PITPNM2_ENST00000392428.1_Silent_p.K705K|PITPNM2_ENST00000320201.4_Silent_p.K984K|PITPNM2_ENST00000280562.5_Silent_p.K978K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	984					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCTCCCTTGGCTTTGAGGGGG	0.642																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2932-2934)aaG>aaA		phosphatidylinositol transfer protein, membrane-associated 2							118.0	119.0	118.0					12																	123472826		2203	4299	6502	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472826C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2952G>A	12.37:g.123472826C>T						PITPNM2_ENST00000542749.1_Silent_p.K984K|PITPNM2_ENST00000320201.4_Silent_p.K984K|PITPNM2_ENST00000392428.1_Silent_p.K705K	p.K978K			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3139	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Silent	SNP	ENST00000542749.1	37	c.2934G>A	CCDS9242.1																																																																																				0.642	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		28	826	0	0	0	1	0	28	826				
MLLT3	4300	broad.mit.edu	37	9	20414398	20414398	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:20414398C>G	ENST00000380338.4	-	5	732	c.446G>C	c.(445-447)aGc>aCc	p.S149T	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	149	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctgGTATGAAT	0.493			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(445-447)aGc>aCc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							16.0	20.0	18.0					9																	20414398		1995	4074	6069	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414398C>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.446G>C	9.37:g.20414398C>G	ENSP00000369695:p.Ser149Thr					MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR	p.S149T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	732	-			149			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.446G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	3.851	-0.031821	0.07543	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	4.95	2.95	0.34219	.	0.391656	0.30630	N	0.009216	T	0.36608	0.0973	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.13255	-1.0516	9	0.21540	T	0.41	-0.1362	11.0938	0.48132	0.0:0.6357:0.3643:0.0	.	149;146;149	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	T	149;146;188	.	ENSP00000369695:S149T	S	-	2	0	MLLT3	20404398	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.776000	0.38594	1.422000	0.47177	-0.181000	0.13052	AGC		0.493	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	339	0	0	0	1	0	6	339				
ANK2	287	broad.mit.edu	37	4	114275283	114275283	+	Missense_Mutation	SNP	G	G	A	rs199527708		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:114275283G>A	ENST00000357077.4	+	38	5562	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1804T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1837	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1837T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCCTCTTCCGCAAAAACTGA	0.507																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.A1837T(1)	lung(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5509-5511)Gca>Aca		ankyrin 2, neuronal		G	,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	119.0	127.0	124.0		,5509,	1.4	0.2	4		124	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,58,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,benign,	,1837/3958,	114275283	4,13002	2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275283G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5509G>A	4.37:g.114275283G>A	ENSP00000349588:p.Ala1837Thr					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1804T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	p.A1837T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5562	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1804			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5509G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610830	0.03690	2.27E-4	3.49E-4	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66460	-0.2;-0.21	5.14	1.38	0.22167	.	0.486081	0.17507	N	0.171771	T	0.55768	0.1941	L	0.54323	1.7	0.41921	D	0.99051	B;B	0.18310	0.004;0.027	B;B	0.14578	0.002;0.011	T	0.45673	-0.9245	9	.	.	.	.	8.1624	0.31207	0.3644:0.0:0.6356:0.0	.	1804;1837	Q01484;Q01484-4	ANK2_HUMAN;.	T	1837;1804	ENSP00000349588:A1837T;ENSP00000264366:A1804T	.	A	+	1	0	ANK2	114494732	0.004000	0.15560	0.236000	0.24074	0.100000	0.18952	0.138000	0.16016	0.385000	0.24970	-0.140000	0.14226	GCA		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	619	0	0	0	1	0	5	619				
EIF3A	8661	broad.mit.edu	37	10	120818809	120818809	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:120818809G>A	ENST00000369144.3	-	11	1671	c.1544C>T	c.(1543-1545)cCt>cTt	p.P515L	SNORA19_ENST00000410656.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.P481L|SNORA19_ENST00000384737.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTGCTCTGAAGGCATGCTTTG	0.443																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(1543-1545)cCt>cTt		eukaryotic translation initiation factor 3, subunit A							156.0	145.0	149.0					10																	120818809		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120818809G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1544C>T	10.37:g.120818809G>A	ENSP00000358140:p.Pro515Leu					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P481L	p.P515L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	11	1671	-		Lung NSC(174;0.094)|all_lung(145;0.123)	515					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.1544C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402420	0.83230	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.48836	0.8;0.8	5.55	5.55	0.83447	.	0.000000	0.39210	N	0.001435	T	0.73179	0.3554	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76302	-0.3009	10	0.66056	D	0.02	-19.8388	19.5144	0.95157	0.0:0.0:1.0:0.0	.	515	Q14152	EIF3A_HUMAN	L	515;481	ENSP00000358140:P515L;ENSP00000438178:P481L	ENSP00000358140:P515L	P	-	2	0	EIF3A	120808799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.618000	0.88619	0.655000	0.94253	CCT		0.443	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		76	284	0	0	0	1	0	76	284				
MEN1	4221	broad.mit.edu	37	11	64574572	64574572	+	Splice_Site	SNP	T	T	C			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:64574572T>C	ENST00000337652.1	-	6	1343		c.e6-2		MEN1_ENST00000315422.4_Splice_Site|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377316.2_Splice_Site|MEN1_ENST00000443283.1_Splice_Site|MEN1_ENST00000377313.1_Splice_Site|MEN1_ENST00000312049.6_Splice_Site|MEN1_ENST00000394374.2_Splice_Site|MEN1_ENST00000377321.1_Splice_Site|MEN1_ENST00000377326.3_Splice_Site|MEN1_ENST00000394376.1_Splice_Site	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGGGGTACCTAGGAAAGGAT	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CS973732	MEN1	S		c.e6-2		multiple endocrine neoplasia I							51.0	55.0	54.0					11																	64574572		2201	4297	6498	SO:0001630	splice_region_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64574572T>C	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.840-2A>G	11.37:g.64574572T>C						MEN1_ENST00000377326.3_Splice_Site|MEN1_ENST00000394376.1_Splice_Site|MEN1_ENST00000315422.4_Splice_Site|MEN1_ENST00000377321.1_Splice_Site|MEN1_ENST00000394374.2_Splice_Site|MEN1_ENST00000443283.1_Splice_Site|MEN1_ENST00000312049.6_Splice_Site|MEN1_ENST00000377316.2_Splice_Site|MEN1_ENST00000377313.1_Splice_Site		NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			6	1343	-								A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Splice_Site	SNP	ENST00000337652.1	37		CCDS8083.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806945	0.50421	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.599	0.50990	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEN1	64331148	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	6.401000	0.73256	1.690000	0.51089	0.379000	0.24179	.		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		Intron	78	13	0	0	0	1	0	78	13				
TRPC4AP	26133	broad.mit.edu	37	20	33588098	33588098	+	IGR	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:33588098G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.R1637H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCCCATAGGCGCAACCACCAG	0.582																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4909-4911)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							104.0	116.0	112.0					20																	33588098		2047	4110	6157	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588098G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588098G>A							p.R1637H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		37	5002	+			1595					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.4910G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418027	0.83449	.	.	ENSG00000078814	ENST00000262873	T	0.81415	-1.49	3.97	3.97	0.46021	Myosin tail (1);	0.000000	0.35235	N	0.003347	D	0.92364	0.7577	H	0.96547	3.84	0.58432	D	0.999991	D	0.76494	0.999	D	0.65773	0.938	D	0.95091	0.8222	10	0.87932	D	0	.	16.6423	0.85129	0.0:0.0:1.0:0.0	.	1595	A7E2Y1	MYH7B_HUMAN	H	1637	ENSP00000262873:R1637H	ENSP00000262873:R1637H	R	+	2	0	MYH7B	33051759	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.758000	0.85224	2.222000	0.72286	0.558000	0.71614	CGC		0.582	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		7	1218	0	0	0	1	0	7	1218				
SLC34A2	10568	broad.mit.edu	37	4	25671330	25671330	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:25671330C>T	ENST00000382051.3	+	7	747	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	SLC34A2_ENST00000504570.1_Missense_Mutation_p.P232S|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P232S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	233					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGTGCTCTTGCCCGTGGAGGT	0.512			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(697-699)Ccc>Tcc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							210.0	201.0	204.0					4																	25671330		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25671330C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.697C>T	4.37:g.25671330C>T	ENSP00000371483:p.Pro233Ser					SLC34A2_ENST00000504570.1_Missense_Mutation_p.P232S|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P232S	p.P233S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			7	747	+		Breast(46;0.0503)	233					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.697C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925189	0.73213	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86097	-2.07;-2.07;-2.07	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95210	0.8324	10	0.72032	D	0.01	-32.0487	19.5216	0.95187	0.0:1.0:0.0:0.0	.	232;233	O95436-2;O95436	.;NPT2B_HUMAN	S	232;233;232	ENSP00000425501:P232S;ENSP00000371483:P233S;ENSP00000423021:P232S	ENSP00000371483:P233S	P	+	1	0	SLC34A2	25280428	1.000000	0.71417	0.509000	0.27700	0.212000	0.24457	7.818000	0.86416	2.700000	0.92200	0.561000	0.74099	CCC		0.512	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		8	762	0	0	0	1	0	8	762				
ORM1	5004	broad.mit.edu	37	9	117087391	117087391	+	Missense_Mutation	SNP	C	C	T	rs3182034	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:117087391C>T	ENST00000259396.8	+	5	577	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	167			R -> C (in dbSNP:rs3182034). {ECO:0000269|PubMed:15489334}.		acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	CGACTGCTTGCGCATTCCCAA	0.562													-|||	7	0.00139776	0.003	0.0	5008	,	,		22279	0.0		0.003	False		,,,				2504	0.0					ENST00000259396.8																			0				endometrium(2)|large_intestine(4)|lung(2)	8						c.(499-501)Cgc>Tgc		orosomucoid 1	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						132.0	145.0	141.0					9																	117087391		2203	4300	6503	SO:0001583	missense	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117087391C>T		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.499C>T	9.37:g.117087391C>T	ENSP00000259396:p.Arg167Cys					ORM1_ENST00000477456.1_3'UTR	p.R167C	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN			5	577	+		Myeloproliferative disorder(63;0.163)	167		R -> C (in dbSNP:rs3182034).			B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	c.499C>T	CCDS6803.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	-	10.58	1.389702	0.25118	.	.	ENSG00000229314	ENST00000259396	T	0.10005	2.92	4.24	2.35	0.29111	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.463309	0.24305	N	0.039689	T	0.03520	0.0101	N	0.02011	-0.69	0.09310	N	0.999999	P	0.42483	0.781	B	0.38458	0.274	T	0.32771	-0.9894	10	0.49607	T	0.09	-18.8371	6.1851	0.20493	0.1104:0.1957:0.6939:0.0	rs3182034;rs17415555	167	P02763	A1AG1_HUMAN	C	167	ENSP00000259396:R167C	ENSP00000259396:R167C	R	+	1	0	ORM1	116127212	0.114000	0.22134	0.005000	0.12908	0.050000	0.14768	1.859000	0.39418	0.479000	0.27511	0.205000	0.17691	CGC		0.562	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			5	399	0	0	0	1	0	5	399				
CRNKL1	51340	broad.mit.edu	37	20	20018172	20018172	+	Missense_Mutation	SNP	T	T	C	rs111503447		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:20018172T>C	ENST00000377340.2	-	14	2205	c.2174A>G	c.(2173-2175)gAa>gGa	p.E725G	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E564G|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E713G|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	725					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CAAACTTCCTTCTTTTCCTGA	0.343																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(2173-2175)gAa>gGa		crooked neck pre-mRNA splicing factor 1							113.0	111.0	112.0					20																	20018172		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20018172T>C	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2174A>G	20.37:g.20018172T>C	ENSP00000366557:p.Glu725Gly					CRNKL1_ENST00000377327.4_Missense_Mutation_p.E713G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E564G|CRNKL1_ENST00000521379.1_5'UTR	p.E725G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			14	2205	-			725					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.2174A>G	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.924075	0.52653	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.51574	1.36;1.36;0.7	5.02	5.02	0.67125	.	0.265685	0.41938	D	0.000781	T	0.42268	0.1195	L	0.42686	1.345	0.58432	D	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.31641	-0.9936	10	0.51188	T	0.08	-17.8372	14.8926	0.70620	0.0:0.0:0.0:1.0	.	725	Q9BZJ0	CRNL1_HUMAN	G	713;725;564	ENSP00000366544:E713G;ENSP00000366557:E725G;ENSP00000440733:E564G	ENSP00000366544:E713G	E	-	2	0	CRNKL1	19966172	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.094000	0.71431	2.098000	0.63641	0.397000	0.26171	GAA		0.343	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			212	224	0	0	0	1	0	212	224				
CD1C	911	broad.mit.edu	37	1	158262047	158262047	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:158262047C>A	ENST00000368170.3	+	3	781	c.502C>A	c.(502-504)Cat>Aat	p.H168N		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	168					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCTACTCAATCATCAGTATGA	0.448																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(502-504)Cat>Aat		CD1c molecule							257.0	258.0	258.0					1																	158262047		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262047C>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.502C>A	1.37:g.158262047C>A	ENSP00000357152:p.His168Asn						p.H168N	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	781	+	all_hematologic(112;0.0378)		168					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.502C>A	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.023|0.023	-1.405588|-1.405588	0.01155|0.01155	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.16324|.	2.35|.	0.113|0.113	0.113|0.113	0.14631|0.14631	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	.|.	.|.	.|.	.|.	T|.	0.05318|.	0.0141|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.28026|.	0.198|.	B|.	0.23275|.	0.045|.	T|.	0.40776|.	-0.9545|.	8|.	0.27785|.	T|.	0.31|.	.|.	.|.	.|.	.|.	.|.	168|.	P29017|.	CD1C_HUMAN|.	N|X	168|102	ENSP00000357152:H168N|.	ENSP00000357151:H168N|.	H|S	+|+	1|2	0|0	CD1C|CD1C	156528671|156528671	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.022000|0.022000	0.10575|0.10575	-0.224000|-0.224000	0.09164|0.09164	0.183000|0.183000	0.20059|0.20059	0.186000|0.186000	0.17326|0.17326	CAT|TCA		0.448	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		6	826	1	0	3.59834e-05	1	3.83624e-05	6	826				
CIT	11113	broad.mit.edu	37	12	120159148	120159148	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:120159148C>T	ENST00000261833.7	-	28	3624	c.3572G>A	c.(3571-3573)aGa>aAa	p.R1191K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1233K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1191	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAAGTCACTTCTTTCTGTCTT	0.483																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(3697-3699)aGa>aAa		citron (rho-interacting, serine/threonine kinase 21)							138.0	119.0	125.0					12																	120159148		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120159148C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3572G>A	12.37:g.120159148C>T	ENSP00000261833:p.Arg1191Lys					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1191K	p.R1233K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	29	3753	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1191			Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3698G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.734|9.734	1.163090|1.163090	0.21538|0.21538	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.02;-0.05	5.91|5.91	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.42245|0.42245	1.32|1.32	0.46725|0.46725	D|D	0.999176|0.999176	.|B;B;B	.|0.25169	.|0.005;0.005;0.119	.|B;B;B	.|0.17722	.|0.004;0.004;0.019	T|T	0.47156|0.47156	-0.9139|-0.9139	5|10	.|0.07175	.|T	.|0.84	.|.	15.1434|15.1434	0.72630|0.72630	0.0:0.9327:0.0:0.0673|0.0:0.9327:0.0:0.0673	.|.	.|1233;1191;724	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|K	819|1233;1191	.|ENSP00000376306:R1233K;ENSP00000261833:R1191K	.|ENSP00000261833:R1191K	E|R	-|-	1|2	0|0	CIT|CIT	118643531|118643531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.089000|6.089000	0.71384|0.71384	1.509000|1.509000	0.48786|0.48786	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.483	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	286	0	0	0	1	0	5	286				
CORIN	10699	broad.mit.edu	37	4	47676485	47676485	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:47676485A>T	ENST00000273857.4	-	10	1281	c.1282T>A	c.(1282-1284)Tgc>Agc	p.C428S	CORIN_ENST00000504584.1_Missense_Mutation_p.C391S|CORIN_ENST00000508498.1_Missense_Mutation_p.C289S|CORIN_ENST00000502252.1_Missense_Mutation_p.C361S|CORIN_ENST00000505909.1_Missense_Mutation_p.C391S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	428		Cleavage; by autolysis.			female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTGTAGAGGCATCTTTGGTCT	0.428																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1282-1284)Tgc>Agc		corin, serine peptidase							219.0	197.0	205.0					4																	47676485		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47676485A>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1282T>A	4.37:g.47676485A>T	ENSP00000273857:p.Cys428Ser					CORIN_ENST00000508498.1_Missense_Mutation_p.C289S|CORIN_ENST00000504584.1_Missense_Mutation_p.C391S|CORIN_ENST00000502252.1_Missense_Mutation_p.C361S|CORIN_ENST00000505909.1_Missense_Mutation_p.C391S	p.C428S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			10	1281	-			428					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1282T>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966569	0.53507	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.94723	-3.07;-3.01;-2.99;-2.83;-3.5	4.83	4.83	0.62350	.	0.113515	0.64402	D	0.000011	D	0.96417	0.8831	M	0.65498	2.005	0.49687	D	0.999816	D;D;D;D	0.89917	0.999;0.999;1.0;0.991	D;D;D;P	0.80764	0.994;0.994;0.973;0.868	D	0.96791	0.9582	10	0.87932	D	0	.	13.418	0.60980	1.0:0.0:0.0:0.0	.	391;391;361;428	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	S	428;289;361;391;391	ENSP00000273857:C428S;ENSP00000425597:C289S;ENSP00000424212:C361S;ENSP00000425401:C391S;ENSP00000423216:C391S	ENSP00000273857:C428S	C	-	1	0	CORIN	47371242	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	6.461000	0.73522	2.154000	0.67381	0.528000	0.53228	TGC		0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			15	403	0	0	0	1	0	15	403				
PITPNM2	57605	broad.mit.edu	37	12	123474421	123474421	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:123474421T>G	ENST00000542749.1	-	16	2707	c.2644A>C	c.(2644-2646)Acc>Ccc	p.T882P	PITPNM2_ENST00000392428.1_Missense_Mutation_p.T603P|PITPNM2_ENST00000320201.4_Missense_Mutation_p.T882P|PITPNM2_ENST00000280562.5_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	882	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGGGGTGGTGGGGCTGGGG	0.687																																						ENST00000320201.4																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2644-2646)Acc>Ccc		phosphatidylinositol transfer protein, membrane-associated 2							3.0	4.0	4.0					12																	123474421		1635	3249	4884	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474421T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2644A>C	12.37:g.123474421T>G	ENSP00000437611:p.Thr882Pro					PITPNM2_ENST00000542749.1_Missense_Mutation_p.T882P|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T603P	p.T882P	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2782	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		882			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2644A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	11.12	1.544787	0.27563	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44881	1.23;0.91;1.23	5.25	-8.06	0.01102	DDHD (2);	0.739382	0.11123	U	0.597255	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10405	-1.0631	10	0.35671	T	0.21	-6.3214	1.0848	0.01650	0.2899:0.2814:0.0983:0.3304	.	882	Q9BZ72	PITM2_HUMAN	P	882;603;882	ENSP00000322218:T882P;ENSP00000376223:T603P;ENSP00000437611:T882P	ENSP00000322218:T882P	T	-	1	0	PITPNM2	122040374	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.305000	0.01133	-1.500000	0.01819	-0.473000	0.04963	ACC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	59	0	0	0	1	0	6	59				
TMEM26	219623	broad.mit.edu	37	10	63170286	63170286	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:63170286G>T	ENST00000399298.3	-	6	1269	c.901C>A	c.(901-903)Ctc>Atc	p.L301I	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	301						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGCGGTAGAGTTGCAACACC	0.517																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(901-903)Ctc>Atc		transmembrane protein 26							112.0	116.0	115.0					10																	63170286		2105	4229	6334	SO:0001583	missense	219623					integral to membrane		g.chr10:63170286G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.901C>A	10.37:g.63170286G>T	ENSP00000382237:p.Leu301Ile					TMEM26_ENST00000507507.1_5'UTR	p.L301I	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1269	-	Prostate(12;0.0112)		301					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.901C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593080	0.46214	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.75	2.84	0.33178	.	0.210298	0.41097	D	0.000954	T	0.38612	0.1047	L	0.41710	1.295	0.80722	D	1	P	0.34934	0.476	B	0.33620	0.167	T	0.10359	-1.0633	9	0.39692	T	0.17	-4.268	6.7335	0.23397	0.2071:0.0:0.6673:0.1256	.	301	Q6ZUK4	TMM26_HUMAN	I	301	.	ENSP00000382237:L301I	L	-	1	0	TMEM26	62840292	0.659000	0.27411	0.407000	0.26434	0.743000	0.42351	0.932000	0.28884	0.331000	0.23511	0.655000	0.94253	CTC		0.517	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		7	213	1	0	0.000157383	1	0.000165061	7	213				
GCC1	79571	broad.mit.edu	37	7	127222454	127222454	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:127222454C>T	ENST00000321407.2	-	2	2366	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	648					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTCATTGGCCGCTGCAAGT	0.582																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1942-1944)Gcc>Acc		GRIP and coiled-coil domain containing 1							120.0	117.0	118.0					7																	127222454		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222454C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1942G>A	7.37:g.127222454C>T	ENSP00000318821:p.Ala648Thr						p.A648T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	2366	-			648					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1942G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387862	0.11581	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.49	2.54	0.30619	.	0.577345	0.19741	N	0.107107	T	0.08626	0.0214	L	0.34521	1.04	0.24510	N	0.994218	B	0.12630	0.006	B	0.14023	0.01	T	0.35475	-0.9787	10	0.16420	T	0.52	-0.3929	6.1245	0.20172	0.1376:0.6504:0.1337:0.0783	.	648	Q96CN9	GCC1_HUMAN	T	648	ENSP00000318821:A648T	ENSP00000318821:A648T	A	-	1	0	GCC1	127009690	0.160000	0.22878	0.044000	0.18714	0.014000	0.08584	0.524000	0.22940	0.792000	0.33850	0.655000	0.94253	GCC		0.582	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		7	502	0	0	0	1	0	7	502				
TXNDC2	84203	broad.mit.edu	37	18	9887463	9887463	+	Silent	SNP	C	C	T	rs111251988		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr18:9887463C>T	ENST00000306084.6	+	2	1186	c.987C>T	c.(985-987)atC>atT	p.I329I	TXNDC2_ENST00000357775.5_Silent_p.I262I|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACATCCCCAAGTCCC	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(985-987)atC>atT		thioredoxin domain containing 2 (spermatozoa)							138.0	131.0	133.0					18																	9887463		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887463C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.987C>T	18.37:g.9887463C>T						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I262I	p.I329I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1186	+			329			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.987C>T	CCDS42414.1																																																																																				0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	400	0	0	0	1	0	5	400				
PITPNM2	57605	broad.mit.edu	37	12	123474427	123474427	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:123474427T>G	ENST00000542749.1	-	16	2701	c.2638A>C	c.(2638-2640)Agc>Cgc	p.S880R	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S880R|PITPNM2_ENST00000280562.5_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	880	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGTGGGGCTGGGGGCGGGC	0.687																																						ENST00000320201.4																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2638-2640)Agc>Cgc		phosphatidylinositol transfer protein, membrane-associated 2							2.0	3.0	2.0					12																	123474427		1321	2883	4204	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474427T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2638A>C	12.37:g.123474427T>G	ENSP00000437611:p.Ser880Arg					PITPNM2_ENST00000542749.1_Missense_Mutation_p.S880R|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R	p.S880R	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		880			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2638A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	8.105	0.777545	0.16120	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44083	1.25;0.93;1.25	5.25	-10.5	0.00291	DDHD (2);	1.325000	0.05462	U	0.551478	T	0.20495	0.0493	N	0.14661	0.345	0.09310	N	1	B	0.22909	0.077	B	0.28991	0.097	T	0.32903	-0.9889	10	0.44086	T	0.13	-0.586	3.5902	0.07986	0.4413:0.3133:0.0929:0.1526	.	880	Q9BZ72	PITM2_HUMAN	R	880;601;880	ENSP00000322218:S880R;ENSP00000376223:S601R;ENSP00000437611:S880R	ENSP00000322218:S880R	S	-	1	0	PITPNM2	122040380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.610000	0.00209	-4.103000	0.00073	-2.971000	0.00081	AGC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	36	0	0	0	1	0	6	36				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		12	320	0	0	0	1	0	12	320				
IGSF1	3547	broad.mit.edu	37	X	130411066	130411066	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:130411066A>G	ENST00000361420.3	-	14	2534	c.2455T>C	c.(2455-2457)Tcc>Ccc	p.S819P	IGSF1_ENST00000370910.1_Missense_Mutation_p.S810P|IGSF1_ENST00000370904.1_Missense_Mutation_p.S810P|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.S824P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	819	Ig-like C2-type 8.				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						CTGTCACTGGATGCTATTTCA	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.(2428-2430)Tcc>Ccc		immunoglobulin superfamily, member 1							174.0	182.0	180.0					X																	130411066		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411066A>G	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.2455T>C	X.37:g.130411066A>G	ENSP00000355010:p.Ser819Pro					IGSF1_ENST00000370903.3_Missense_Mutation_p.S824P|IGSF1_ENST00000370910.1_Missense_Mutation_p.S810P|IGSF1_ENST00000361420.3_Missense_Mutation_p.S819P|IGSF1_ENST00000467244.1_5'UTR	p.S810P			Q8N6C5	IGSF1_HUMAN			20	3338	-			819			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2428T>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281633	0.23392	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.39	2.78	0.32641	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177617	0.27705	N	0.018195	T	0.11537	0.0281	N	0.02129	-0.67	0.09310	N	1	B;B;D	0.64830	0.257;0.182;0.994	B;B;D	0.77004	0.428;0.238;0.989	T	0.17258	-1.0375	10	0.35671	T	0.21	.	8.462	0.32934	0.6162:0.3838:0.0:0.0	.	810;263;819	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	P	810;819;810;824	ENSP00000359947:S810P;ENSP00000355010:S819P;ENSP00000359941:S810P;ENSP00000359940:S824P	ENSP00000355010:S819P	S	-	1	0	IGSF1	130238747	0.951000	0.32395	0.977000	0.42913	0.185000	0.23345	2.074000	0.41529	0.765000	0.33221	0.486000	0.48141	TCC		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			6	817	0	0	0	1	0	6	817				
GEMIN2	8487	broad.mit.edu	37	14	39597482	39597482	+	Splice_Site	SNP	A	A	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:39597482A>T	ENST00000308317.6	+	7	647		c.e7-1		GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											TTTTTTTTTTAGGCAACAGTA	0.308																																						ENST00000308317.6																			0											c.e7-1		gem (nuclear organelle) associated protein 2							66.0	71.0	69.0					14																	39597482		2203	4300	6503	SO:0001630	splice_region_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39597482A>T	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.565-1A>T	14.37:g.39597482A>T						GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site		NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			7	647	+								B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Splice_Site	SNP	ENST00000308317.6	37		CCDS9669.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100661	0.76983	.	.	ENSG00000092208	ENST00000308317;ENST00000396249;ENST00000250379;ENST00000527381	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3281	0.66534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GEMIN2	38667233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.625000	0.74248	2.330000	0.79161	0.528000	0.53228	.		0.308	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		Intron	9	344	0	0	0	1	0	9	344				
CABIN1	23523	broad.mit.edu	37	22	24483551	24483551	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr22:24483551G>A	ENST00000398319.2	+	23	3795	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	CABIN1_ENST00000263119.5_Missense_Mutation_p.S1137N|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1087N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1137					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGATTGACAGCTCCAACTTG	0.552																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3409-3411)aGc>aAc		calcineurin binding protein 1							112.0	94.0	100.0					22																	24483551		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483551G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3410G>A	22.37:g.24483551G>A	ENSP00000381364:p.Ser1137Asn					CABIN1_ENST00000263119.5_Missense_Mutation_p.S1137N|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1087N	p.S1137N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			23	3795	+			1137					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3410G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613379	0.28712	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75938	-0.98;-0.98;-0.98	5.1	4.03	0.46877	Tetratricopeptide-like helical (1);	0.094727	0.64402	D	0.000001	T	0.72350	0.3449	L	0.31664	0.95	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.58721	0.844;0.702	T	0.65598	-0.6129	10	0.08599	T	0.76	.	15.4446	0.75220	0.0:0.1385:0.8615:0.0	.	1087;1137	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	N	1137;1087;1137	ENSP00000263119:S1137N;ENSP00000384694:S1087N;ENSP00000381364:S1137N	ENSP00000263119:S1137N	S	+	2	0	CABIN1	22813551	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.730000	0.55006	2.568000	0.86640	0.650000	0.86243	AGC		0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		4	223	0	0	0	1	0	4	223				
ERBB2IP	55914	broad.mit.edu	37	5	65309380	65309380	+	Silent	SNP	C	C	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr5:65309380C>A	ENST00000284037.5	+	6	779	c.390C>A	c.(388-390)ctC>ctA	p.L130L	ERBB2IP_ENST00000506030.1_Silent_p.L130L|ERBB2IP_ENST00000380936.1_Silent_p.L130L|ERBB2IP_ENST00000380943.2_Silent_p.L130L|ERBB2IP_ENST00000416865.2_Silent_p.L130L|ERBB2IP_ENST00000511297.1_Silent_p.L130L|ERBB2IP_ENST00000380935.1_Silent_p.L130L|ERBB2IP_ENST00000380939.2_Silent_p.L130L|ERBB2IP_ENST00000508515.1_Silent_p.L130L|ERBB2IP_ENST00000380938.2_Silent_p.L130L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	130					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TATGTAGGCTCCCTGATGGAT	0.338																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(388-390)ctC>ctA		erbb2 interacting protein							142.0	146.0	145.0					5																	65309380		2203	4299	6502	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65309380C>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.390C>A	5.37:g.65309380C>A						ERBB2IP_ENST00000416865.2_Silent_p.L130L|ERBB2IP_ENST00000380943.2_Silent_p.L130L|ERBB2IP_ENST00000511297.1_Silent_p.L130L|ERBB2IP_ENST00000380938.2_Silent_p.L130L|ERBB2IP_ENST00000380936.1_Silent_p.L130L|ERBB2IP_ENST00000508515.1_Silent_p.L130L|ERBB2IP_ENST00000380935.1_Silent_p.L130L|ERBB2IP_ENST00000380939.2_Silent_p.L130L|ERBB2IP_ENST00000506030.1_Silent_p.L130L	p.L130L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	6	779	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	130					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.390C>A	CCDS58953.1																																																																																				0.338	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		121	541	1	0	1.75003e-54	1	1.99782e-54	121	541				
PVRL1	5818	broad.mit.edu	37	11	119535743	119535743	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:119535743T>C	ENST00000264025.3	-	6	1798	c.1268A>G	c.(1267-1269)gAc>gGc	p.D423G	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	423					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CTTCTCGTCGTCTGAGTCGTC	0.652																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1267-1269)gAc>gGc		poliovirus receptor-related 1 (herpesvirus entry mediator C)							85.0	65.0	72.0					11																	119535743		2196	4291	6487	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535743T>C	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1268A>G	11.37:g.119535743T>C	ENSP00000264025:p.Asp423Gly					PVRL1_ENST00000341398.2_Intron	p.D423G	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1798	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	423					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1268A>G	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	16.77	3.215975	0.58452	.	.	ENSG00000110400	ENST00000264025	T	0.21031	2.03	3.9	3.9	0.45041	.	0.179365	0.46145	D	0.000312	T	0.37461	0.1004	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15464	-1.0436	10	0.62326	D	0.03	.	12.6248	0.56623	0.0:0.0:0.0:1.0	.	423	Q15223	PVRL1_HUMAN	G	423	ENSP00000264025:D423G	ENSP00000264025:D423G	D	-	2	0	PVRL1	119040953	1.000000	0.71417	0.995000	0.50966	0.580000	0.36256	7.436000	0.80404	1.712000	0.51347	0.392000	0.25879	GAC		0.652	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	180	0	0	0	1	0	8	180				
PIGO	84720	broad.mit.edu	37	9	35095163	35095163	+	Missense_Mutation	SNP	G	G	A	rs561715009		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:35095163G>A	ENST00000378617.3	-	2	794	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PIGO_ENST00000492770.1_5'UTR|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Missense_Mutation_p.R134C|PIGO_ENST00000298004.5_Missense_Mutation_p.R134C|PIGO_ENST00000361778.2_Missense_Mutation_p.R134C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	134					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCCTTGAGGCGCTGCATGGTG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.001					ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(400-402)Cgc>Tgc		phosphatidylinositol glycan anchor biosynthesis, class O							101.0	87.0	92.0					9																	35095163		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095163G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.400C>T	9.37:g.35095163G>A	ENSP00000367880:p.Arg134Cys					PIGO_ENST00000298004.5_Missense_Mutation_p.R134C|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.R134C|PIGO_ENST00000341666.3_Missense_Mutation_p.R134C	p.R134C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	794	-			134					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.400C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320368	0.81469	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.93	5.93	0.95920	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.055982	0.64402	D	0.000002	T	0.65249	0.2673	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72757	-0.4197	10	0.87932	D	0	-15.7009	15.1109	0.72355	0.0:0.0:0.8586:0.1414	.	134;134	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	C	134	ENSP00000298004:R134C;ENSP00000367880:R134C;ENSP00000339382:R134C;ENSP00000354678:R134C	ENSP00000298004:R134C	R	-	1	0	PIGO	35085163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.983000	0.56916	2.826000	0.97356	0.655000	0.94253	CGC		0.557	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		5	437	0	0	0	1	0	5	437				
KLHL38	340359	broad.mit.edu	37	8	124664364	124664364	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr8:124664364G>A	ENST00000325995.7	-	1	826	c.803C>T	c.(802-804)cCa>cTa	p.P268L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	268								p.P268Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTTGCAGTCTGGGACGGTGGT	0.552																																						ENST00000325995.7																			1	Substitution - Missense(1)	p.P268Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(802-804)cCa>cTa		kelch-like family member 38							84.0	85.0	85.0					8																	124664364		2059	4194	6253	SO:0001583	missense	340359							g.chr8:124664364G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.803C>T	8.37:g.124664364G>A	ENSP00000321475:p.Pro268Leu					CTD-2552K11.2_ENST00000524355.1_RNA	p.P268L	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	826	-			268					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.803C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.398431	0.01175	.	.	ENSG00000175946	ENST00000325995	T	0.73258	-0.73	5.2	2.13	0.27403	.	0.771268	0.12755	N	0.441805	T	0.61726	0.2370	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.48614	-0.9020	10	0.29301	T	0.29	.	8.3653	0.32382	0.0729:0.0:0.595:0.332	.	268	Q2WGJ6	KLH38_HUMAN	L	268	ENSP00000321475:P268L	ENSP00000321475:P268L	P	-	2	0	KLHL38	124733545	0.988000	0.35896	0.004000	0.12327	0.158000	0.22134	2.589000	0.46145	0.089000	0.17243	0.561000	0.74099	CCA		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			7	216	0	0	0	1	0	7	216				
DACH2	117154	broad.mit.edu	37	X	85969720	85969720	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:85969720A>G	ENST00000373125.4	+	6	1101	c.1101A>G	c.(1099-1101)atA>atG	p.I367M	DACH2_ENST00000508860.1_Missense_Mutation_p.I200M|DACH2_ENST00000373131.1_Missense_Mutation_p.I354M|DACH2_ENST00000510272.1_Missense_Mutation_p.I148M	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	367					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCTCTGTTATAAAGGTAAGAA	0.398																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1060-1062)atA>atG		dachshund homolog 2 (Drosophila)							69.0	60.0	63.0					X																	85969720		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969720A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1101A>G	X.37:g.85969720A>G	ENSP00000362217:p.Ile367Met					DACH2_ENST00000373125.4_Missense_Mutation_p.I367M|DACH2_ENST00000510272.1_Missense_Mutation_p.I148M|DACH2_ENST00000508860.1_Missense_Mutation_p.I200M	p.I354M	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			5	1225	+			367					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1062A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610729	0.46527	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.84873	-1.9;-1.91	5.02	0.976	0.19727	.	0.074488	0.53938	D	0.000056	D	0.87943	0.6305	M	0.62723	1.935	0.42515	D	0.992987	D;D;D;D	0.69078	0.964;0.997;0.997;0.989	P;P;D;D	0.72075	0.762;0.856;0.976;0.921	D	0.84939	0.0864	10	0.48119	T	0.1	.	6.6256	0.22828	0.5793:0.1926:0.0:0.2281	.	233;367;354;367	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	M	367;354;367;200;148;200;22	ENSP00000362223:I354M;ENSP00000362217:I367M	ENSP00000345134:I367M	I	+	3	3	DACH2	85856376	0.867000	0.29959	1.000000	0.80357	0.782000	0.44232	-0.026000	0.12392	0.546000	0.28920	0.417000	0.27973	ATA		0.398	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		34	208	0	0	0	1	0	34	208				
ZFP64	55734	broad.mit.edu	37	20	50769153	50769153	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:50769153C>G	ENST00000216923.4	-	6	1927	c.1578G>C	c.(1576-1578)ttG>ttC	p.L526F	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.L524F|ZFP64_ENST00000346617.4_Missense_Mutation_p.L472F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	526					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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTGGGCCACCAAGGCAGGCG	0.652																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1576-1578)ttG>ttC		ZFP64 zinc finger protein							23.0	27.0	25.0					20																	50769153		2202	4300	6502	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769153C>G	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1578G>C	20.37:g.50769153C>G	ENSP00000216923:p.Leu526Phe					ZFP64_ENST00000371515.4_Missense_Mutation_p.L524F|ZFP64_ENST00000346617.4_Missense_Mutation_p.L472F|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	p.L526F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1927	-			526					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1578G>C	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993909	0.35131	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.09073	3.02;3.07;3.02	5.57	4.62	0.57501	.	0.000000	0.46442	D	0.000288	T	0.06462	0.0166	L	0.29908	0.895	0.38194	D	0.939985	P;P;P	0.46512	0.879;0.808;0.808	B;B;B	0.39258	0.295;0.154;0.154	T	0.19582	-1.0301	10	0.51188	T	0.08	-17.0676	9.5197	0.39126	0.0:0.7538:0.0:0.2462	.	472;524;526	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	F	526;472;524;368	ENSP00000216923:L526F;ENSP00000344615:L472F;ENSP00000360570:L524F	ENSP00000216923:L526F	L	-	3	2	ZFP64	50202560	0.970000	0.33590	0.996000	0.52242	0.286000	0.27126	0.170000	0.16663	2.619000	0.88677	0.650000	0.86243	TTG		0.652	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		7	171	0	0	0	1	0	7	171				
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						ENST00000417404.1																			0																																																			0							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1291	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		4	122	0	0	0	1	0	4	122				
TEX14	56155	broad.mit.edu	37	17	56688700	56688700	+	Splice_Site	SNP	G	G	A	rs199818464		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:56688700G>A	ENST00000240361.8	-	10	1109	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	TEX14_ENST00000389934.3_Splice_Site_p.R336W|TEX14_ENST00000349033.5_Splice_Site_p.R336W			Q8IWB6	TEX14_HUMAN	testis expressed 14	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTGGGACCGCTGCAAGCAA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11609	0.0		0.0	False		,,,				2504	0.0					ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.e10-1		testis expressed 14		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	72.0	69.0	70.0		1024,1006,1006	1.9	1.0	17		70	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	101,101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	342/1498,336/1452,336/1492	56688700	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56688700G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1024-1C>T	17.37:g.56688700G>A						TEX14_ENST00000349033.5_Splice_Site_p.R336_splice|TEX14_ENST00000240361.8_Splice_Site_p.R342_splice	p.R336_splice	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			10	1123	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		342			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	SNP	ENST00000240361.8	37	c.1005_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760449	0.69763	4.54E-4	0.0	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.45668	0.89;0.89;0.89	5.42	1.87	0.25490	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	T	0.70771	0.3262	M	0.93678	3.445	0.43025	D	0.994587	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.77101	-0.2712	10	0.87932	D	0	-22.0085	13.2907	0.60269	0.0:0.0:0.5026:0.4974	.	342;336;336	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	W	342;336;336	ENSP00000240361:R342W;ENSP00000374584:R336W;ENSP00000268910:R336W	ENSP00000240361:R342W	R	-	1	2	TEX14	54043699	1.000000	0.71417	0.956000	0.39512	0.950000	0.60333	1.875000	0.39578	0.088000	0.17205	0.563000	0.77884	CGG		0.498	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Missense_Mutation	5	351	0	0	0	1	0	5	351				
PIGO	84720	broad.mit.edu	37	9	35090130	35090130	+	Missense_Mutation	SNP	G	G	A	rs149391665	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:35090130G>A	ENST00000378617.3	-	9	3396	c.3002C>T	c.(3001-3003)gCg>gTg	p.A1001V	PIGO_ENST00000341666.3_Missense_Mutation_p.A1001V|PIGO_ENST00000298004.5_Missense_Mutation_p.A584V|PIGO_ENST00000361778.2_Missense_Mutation_p.A584V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	1001					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGCTGAGGCGCATCCCGGAG	0.582													g|||	2	0.000399361	0.0	0.0	5008	,	,		19634	0.001		0.001	False		,,,				2504	0.0					ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(3001-3003)gCg>gTg		phosphatidylinositol glycan anchor biosynthesis, class O		A	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94.0	82.0	86.0		1751,3002,1751	2.7	0.0	9	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense,missense	PIGO	NM_001201484.1,NM_032634.3,NM_152850.3	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	584/673,1001/1090,584/673	35090130	1,13005	2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090130G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.3002C>T	9.37:g.35090130G>A	ENSP00000367880:p.Ala1001Val					PIGO_ENST00000298004.5_Missense_Mutation_p.A584V|PIGO_ENST00000361778.2_Missense_Mutation_p.A584V|PIGO_ENST00000341666.3_Missense_Mutation_p.A1001V	p.A1001V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	3396	-			1001					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.3002C>T	CCDS6575.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	7.985	0.751968	0.15778	2.27E-4	0.0	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.49;0.51;0.51;0.49	5.41	2.65	0.31530	.	0.779475	0.12234	N	0.487145	T	0.34542	0.0901	N	0.25647	0.755	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.003	T	0.21008	-1.0258	10	0.30078	T	0.28	-0.859	4.2467	0.10675	0.1344:0.1257:0.6095:0.1304	.	584;1001	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	V	584;1001;1001;584	ENSP00000298004:A584V;ENSP00000367880:A1001V;ENSP00000339382:A1001V;ENSP00000354678:A584V	ENSP00000298004:A584V	A	-	2	0	PIGO	35080130	0.684000	0.27642	0.007000	0.13788	0.934000	0.57294	3.432000	0.52824	0.442000	0.26555	-0.708000	0.03648	GCG		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		5	459	0	0	0	1	0	5	459				
ZNF628	89887	broad.mit.edu	37	19	55994105	55994105	+	Silent	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:55994105C>T	ENST00000598519.1	+	3	2098	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	ZNF628_ENST00000391718.2_Silent_p.C511C|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	515					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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGGCCAGTGCGGCCTCACCT	0.682																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1531-1533)tgC>tgT		zinc finger protein 628							37.0	37.0	37.0					19																	55994105		2202	4298	6500	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994105C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1545C>T	19.37:g.55994105C>T						ZNF628_ENST00000598519.1_Silent_p.C515C	p.C511C			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2098	+	Breast(117;0.155)		511					Q86X34	Silent	SNP	ENST00000598519.1	37	c.1533C>T	CCDS33116.3																																																																																				0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		5	337	0	0	0	1	0	5	337				
MEPCE	56257	broad.mit.edu	37	7	100028427	100028427	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:100028427G>A	ENST00000310512.2	+	1	1174	c.786G>A	c.(784-786)cgG>cgA	p.R262R	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	262					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R262R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCGGAAGCGGCATAGACACC	0.597																																						ENST00000310512.2																			1	Substitution - coding silent(1)	p.R262R(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(784-786)cgG>cgA		methylphosphate capping enzyme							118.0	129.0	125.0					7																	100028427		2203	4300	6503	SO:0001819	synonymous_variant	56257						methyltransferase activity	g.chr7:100028427G>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.786G>A	7.37:g.100028427G>A						MEPCE_ENST00000414441.1_5'UTR	p.R262R	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1174	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		262					B3KP86|D6W5V7|Q9NPD4	Silent	SNP	ENST00000310512.2	37	c.786G>A	CCDS5693.1																																																																																				0.597	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			8	1083	0	0	0	1	0	8	1083				
RPRD1A	55197	broad.mit.edu	37	18	33573139	33573139	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr18:33573139G>A	ENST00000399022.4	-	7	1085	c.914C>T	c.(913-915)gCg>gTg	p.A305V	RPRD1A_ENST00000590898.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000357384.4_Missense_Mutation_p.A305V|RPRD1A_ENST00000337059.5_Missense_Mutation_p.A269V|RPRD1A_ENST00000588737.1_Missense_Mutation_p.A269V	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	305					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GATGTCTCCCGCAAAGGGCAG	0.532																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(913-915)gCg>gTg		regulation of nuclear pre-mRNA domain containing 1A							91.0	85.0	87.0					18																	33573139		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33573139G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.914C>T	18.37:g.33573139G>A	ENSP00000381984:p.Ala305Val					RPRD1A_ENST00000357384.4_Missense_Mutation_p.A305V|RPRD1A_ENST00000588737.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000590898.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000337059.5_Missense_Mutation_p.A269V	p.A305V	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			7	1085	-			305					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.914C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054244	0.75960	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059	.	.	.	5.67	5.67	0.87782	.	0.217495	0.42821	D	0.000657	T	0.62998	0.2474	L	0.54323	1.7	0.80722	D	1	P;D	0.55385	0.855;0.971	B;P	0.52856	0.228;0.711	T	0.62120	-0.6921	9	0.42905	T	0.14	-9.8549	12.9286	0.58275	0.0:0.1628:0.8372:0.0	.	305;269	Q96P16;Q96P16-3	RPR1A_HUMAN;.	V	305;305;269	.	ENSP00000337476:A269V	A	-	2	0	RPRD1A	31827137	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	7.698000	0.84413	2.687000	0.91594	0.655000	0.94253	GCG		0.532	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		5	324	0	0	0	1	0	5	324				
TSIX	9383	broad.mit.edu	37	X	73046100	73046100	+	lincRNA	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:73046100G>A	ENST00000604411.1	+	0	34061				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CCAACAACCTGACCATTTTAT	0.413																																						ENST00000604411.1																			0																				117.0	115.0	116.0					X																	73046100		876	1991	2867			0							g.chrX:73046100G>A			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046100G>A						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34061	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.413	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		15	367	0	0	0	1	0	15	367				
CA5A	763	broad.mit.edu	37	16	87921837	87921837	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr16:87921837T>G	ENST00000309893.2	-	7	881	c.816A>C	c.(814-816)gaA>gaC	p.E272D		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	272					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCTTCTCCTCTTCACCAAGTG	0.542																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(814-816)gaA>gaC		carbonic anhydrase VA, mitochondrial							62.0	55.0	57.0					16																	87921837		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87921837T>G	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.816A>C	16.37:g.87921837T>G	ENSP00000309649:p.Glu272Asp						p.E272D	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	7	881	-			272					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.816A>C	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	t	16.40	3.111966	0.56398	.	.	ENSG00000174990	ENST00000309893	T	0.63417	-0.04	4.75	-1.35	0.09114	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.31804	0.96	0.49051	D	0.999748	D	0.65815	0.995	D	0.75484	0.986	T	0.56836	-0.7913	10	0.32370	T	0.25	-16.7858	10.7	0.45922	0.0:0.7225:0.0:0.2775	.	272	P35218	CAH5A_HUMAN	D	272	ENSP00000309649:E272D	ENSP00000309649:E272D	E	-	3	2	CA5A	86479338	0.597000	0.26874	0.962000	0.40283	0.587000	0.36485	-0.376000	0.07465	-0.185000	0.10550	0.254000	0.18369	GAA		0.542	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		58	8	0	0	0	1	0	58	8				
PHLDB2	90102	broad.mit.edu	37	3	111688612	111688612	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr3:111688612C>T	ENST00000431670.2	+	16	3802	c.3391C>T	c.(3391-3393)Cac>Tac	p.H1131Y	PHLDB2_ENST00000412622.1_Missense_Mutation_p.H1088Y|PHLDB2_ENST00000393925.3_Missense_Mutation_p.H1131Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H1115Y|PHLDB2_ENST00000495180.1_Missense_Mutation_p.H622Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H1088Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1131						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACTGCTGGCCACAATATTGA	0.468																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3391-3393)Cac>Tac		pleckstrin homology-like domain, family B, member 2							107.0	110.0	109.0					3																	111688612		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111688612C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3391C>T	3.37:g.111688612C>T	ENSP00000405405:p.His1131Tyr					PHLDB2_ENST00000393925.3_Missense_Mutation_p.H1131Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H1115Y|PHLDB2_ENST00000495180.1_Missense_Mutation_p.H622Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H1088Y|PHLDB2_ENST00000412622.1_Missense_Mutation_p.H1088Y	p.H1131Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			16	3802	+			1131					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3391C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302528	0.60195	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;0.996;1.0;1.0	D;D;D;D;D	0.91635	0.986;0.997;0.977;0.999;0.999	D	0.90453	0.4440	10	0.87932	D	0	.	17.3647	0.87360	0.0:1.0:0.0:0.0	.	243;622;1131;1088;1115	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	Y	1115;1131;1088;1088;1131;1088;622	ENSP00000377500:H1115Y;ENSP00000405405:H1131Y;ENSP00000405292:H1088Y;ENSP00000418296:H1088Y;ENSP00000377502:H1131Y;ENSP00000418319:H1088Y;ENSP00000420303:H622Y	ENSP00000377500:H1115Y	H	+	1	0	PHLDB2	113171302	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	7.285000	0.78660	2.632000	0.89209	0.585000	0.79938	CAC		0.468	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		26	221	0	0	0	1	0	26	221				
GSX1	219409	broad.mit.edu	37	13	28367938	28367938	+	Silent	SNP	C	C	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr13:28367938C>G	ENST00000302945.2	+	2	696	c.648C>G	c.(646-648)ggC>ggG	p.G216G		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	216	Poly-Gly.				adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		gcggcggcggcgggggtgccg	0.627																																						ENST00000302945.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(646-648)ggC>ggG		GS homeobox 1							32.0	33.0	32.0					13																	28367938		2202	4300	6502	SO:0001819	synonymous_variant	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367938C>G	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.648C>G	13.37:g.28367938C>G							p.G216G	NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	696	+		Lung SC(185;0.0161)	216			Poly-Gly.		Q9UD62	Silent	SNP	ENST00000302945.2	37	c.648C>G	CCDS9326.1																																																																																				0.627	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		5	272	0	0	0	1	0	5	272				
TOM1L1	10040	broad.mit.edu	37	17	53007467	53007467	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:53007467A>T	ENST00000575882.1	+	8	1107	c.754A>T	c.(754-756)Agg>Tgg	p.R252W	TOM1L1_ENST00000348161.4_Missense_Mutation_p.R175W|TOM1L1_ENST00000536554.1_Missense_Mutation_p.R175W|TOM1L1_ENST00000570371.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000575333.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000572158.1_Missense_Mutation_p.R245W|TOM1L1_ENST00000445275.2_Missense_Mutation_p.R252W|TOM1L1_ENST00000540336.1_Missense_Mutation_p.R140W	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	252	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GATGCAGGAGAGGATCATGGA	0.418																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(754-756)Agg>Tgg		target of myb1 (chicken)-like 1							219.0	191.0	201.0					17																	53007467		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53007467A>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.754A>T	17.37:g.53007467A>T	ENSP00000460823:p.Arg252Trp					TOM1L1_ENST00000445275.2_Missense_Mutation_p.R252W|TOM1L1_ENST00000570371.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000536554.1_Missense_Mutation_p.R175W|TOM1L1_ENST00000575333.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000540336.1_Missense_Mutation_p.R140W|TOM1L1_ENST00000572158.1_Missense_Mutation_p.R245W|TOM1L1_ENST00000348161.4_Missense_Mutation_p.R175W	p.R252W	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			8	1107	+			252			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.754A>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140303	0.77775	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.07	3.97	0.46021	GAT (2);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.83118	2.625	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.71137	-0.4680	10	0.87932	D	0	-5.0823	10.2537	0.43383	0.8334:0.1666:0.0:0.0	.	140;245;175;252;252	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	W	252;140;175;175	ENSP00000408958:R252W;ENSP00000441242:R140W;ENSP00000343901:R175W;ENSP00000443099:R175W	ENSP00000343901:R175W	R	+	1	2	TOM1L1	50362466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.333000	0.43912	0.919000	0.36945	0.460000	0.39030	AGG		0.418	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		11	419	0	0	0	1	0	11	419				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			12	167	0	0	0	1	0	12	167				
DNAH8	1769	broad.mit.edu	37	6	38750805	38750805	+	Missense_Mutation	SNP	C	C	A	rs199804814		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:38750805C>A	ENST00000359357.3	+	15	1888	c.1634C>A	c.(1633-1635)cCg>cAg	p.P545Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.P545Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.P762Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	545					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATCAAGTCCGGACGGTAAA	0.368																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1633-1635)cCg>cAg		dynein, axonemal, heavy chain 8							95.0	90.0	92.0					6																	38750805		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38750805C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1634C>A	6.37:g.38750805C>A	ENSP00000352312:p.Pro545Gln					DNAH8_ENST00000441566.1_Missense_Mutation_p.P545Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.P762Q	p.P545Q							15	1888	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1634C>A		.	.	.	.	.	.	.	.	.	.	C	10.17	1.276647	0.23307	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55930	0.49;0.49;0.49	5.74	-5.44	0.02624	Dynein heavy chain, domain-1 (1);	3.514710	0.00760	N	0.001131	T	0.19446	0.0467	L	0.38953	1.18	0.09310	N	1	B	0.18741	0.03	B	0.30179	0.112	T	0.15723	-1.0427	10	0.27082	T	0.32	.	7.4157	0.27042	0.1009:0.4211:0.0:0.4781	.	545	Q96JB1	DYH8_HUMAN	Q	750;750;545;545	ENSP00000333363:P750Q;ENSP00000352312:P545Q;ENSP00000402294:P545Q	ENSP00000333363:P750Q	P	+	2	0	DNAH8	38858783	0.000000	0.05858	0.000000	0.03702	0.591000	0.36615	0.002000	0.13061	-1.765000	0.01303	-0.469000	0.05056	CCG		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		107	16	1	0	2.18931e-77	1	2.56746e-77	107	16				
GANAB	23193	broad.mit.edu	37	11	62406863	62406863	+	Missense_Mutation	SNP	G	G	A	rs143393884	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:62406863G>A	ENST00000356638.3	-	3	236	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	GANAB_ENST00000346178.4_Missense_Mutation_p.L74F|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	74					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGGACCGTGAGGGAATCAGGA	0.567													G|||	5	0.000998403	0.003	0.0014	5008	,	,		18158	0.0		0.0	False		,,,				2504	0.0				Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(220-222)Ctc>Ttc		glucosidase, alpha; neutral AB		G	PHE/LEU,PHE/LEU	14,4390	21.2+/-45.6	0,14,2188	105.0	98.0	100.0		220,220	2.9	0.9	11	dbSNP_134	100	0,8598		0,0,4299	yes	missense,missense	GANAB	NM_198334.1,NM_198335.2	22,22	0,14,6487	AA,AG,GG		0.0,0.3179,0.1077	benign,benign	74/945,74/967	62406863	14,12988	2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62406863G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.220C>T	11.37:g.62406863G>A	ENSP00000349053:p.Leu74Phe					GANAB_ENST00000534779.1_Intron|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Missense_Mutation_p.L74F|GANAB_ENST00000534422.1_5'UTR	p.L74F	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			3	235	-			74					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.220C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094955	0.36952	0.003179	0.0	ENSG00000089597	ENST00000346178;ENST00000356638	D;D	0.90004	-2.6;-2.5	4.79	2.91	0.33838	Glycoside hydrolase-type carbohydrate-binding (1);	0.295070	0.33217	N	0.005160	D	0.86351	0.5912	M	0.81497	2.545	0.80722	D	1	B;P	0.35011	0.204;0.48	B;B	0.35312	0.099;0.2	T	0.82402	-0.0475	10	0.56958	D	0.05	-11.9555	3.4842	0.07614	0.0914:0.1719:0.5585:0.1783	.	74;74	Q14697;Q14697-2	GANAB_HUMAN;.	F	74	ENSP00000340466:L74F;ENSP00000349053:L74F	ENSP00000340466:L74F	L	-	1	0	GANAB	62163439	0.991000	0.36638	0.919000	0.36401	0.880000	0.50808	2.059000	0.41384	0.631000	0.30412	-1.106000	0.02097	CTC		0.567	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		54	181	0	0	0	1	0	54	181				
GNAQ	2776	broad.mit.edu	37	9	80646047	80646047	+	Silent	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:80646047G>A	ENST00000286548.4	-	1	327	c.105C>T	c.(103-105)gaC>gaT	p.D35D		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	35					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCGGCGGGCGTCCCGCTTGT	0.716			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		0				NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(103-105)gaC>gaT		guanine nucleotide binding protein (G protein), q polypeptide							10.0	11.0	11.0					9																	80646047		2164	4251	6415	SO:0001819	synonymous_variant	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80646047G>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.105C>T	9.37:g.80646047G>A							p.D35D	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			1	327	-			35					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	ENST00000286548.4	37	c.105C>T	CCDS6658.1																																																																																				0.716	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		3	51	0	0	0	1	0	3	51				
FBXO21	23014	broad.mit.edu	37	12	117595774	117595774	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:117595774C>T	ENST00000330622.5	-	10	1441	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	FBXO21_ENST00000427718.2_Missense_Mutation_p.R474H			O94952	FBX21_HUMAN	F-box protein 21	481					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CTCCTTTTTGCGCTCAATGTG	0.562																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1420-1422)cGc>cAc		F-box protein 21							232.0	206.0	215.0					12																	117595774		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595774C>T	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1442G>A	12.37:g.117595774C>T	ENSP00000328187:p.Arg481His					FBXO21_ENST00000330622.5_Missense_Mutation_p.R481H	p.R474H	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1495	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		481					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1421G>A	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493532	0.44352	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	T;T	0.49720	0.81;0.77	5.02	5.02	0.67125	F-box domain, Skp2-like (1);	0.060255	0.64402	D	0.000002	T	0.25306	0.0615	N	0.04508	-0.205	0.47276	D	0.999374	B;B;B;B	0.22276	0.013;0.002;0.056;0.067	B;B;B;B	0.17722	0.003;0.001;0.005;0.019	T	0.08911	-1.0699	10	0.32370	T	0.25	-9.4833	11.9286	0.52833	0.0:0.9212:0.0:0.0788	.	330;224;481;474	Q8IUQ5;B3KQC8;O94952;O94952-1	.;.;FBX21_HUMAN;.	H	474;390;330;481;133	ENSP00000414468:R474H;ENSP00000328187:R481H	ENSP00000257563:R390H	R	-	2	0	FBXO21	116080157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.535000	0.60629	2.607000	0.88179	0.655000	0.94253	CGC		0.562	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		8	1191	0	0	0	1	0	8	1191				
ZNF440	126070	broad.mit.edu	37	19	11943564	11943564	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:11943564G>A	ENST00000304060.5	+	4	1737	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	525					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCCTTCAGAGCTGTGTCA	0.463																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1573-1575)Gag>Aag		zinc finger protein 440							63.0	68.0	66.0					19																	11943564		2187	4293	6480	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943564G>A	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1573G>A	19.37:g.11943564G>A	ENSP00000305373:p.Glu525Lys						p.E525K	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1737	+			525					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1573G>A	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	3.246	-0.154256	0.06585	.	.	ENSG00000171295	ENST00000304060	T	0.05319	3.46	0.158	0.158	0.14942	.	.	.	.	.	T	0.02267	0.0070	N	0.12182	0.205	0.09310	N	1	B	0.28324	0.207	B	0.18561	0.022	T	0.42816	-0.9429	9	0.06365	T	0.9	.	2.2427	0.04024	0.0:0.3235:0.355:0.3215	.	525	Q8IYI8	ZN440_HUMAN	K	525	ENSP00000305373:E525K	ENSP00000305373:E525K	E	+	1	0	ZNF440	11804564	0.000000	0.05858	0.011000	0.14972	0.020000	0.10135	-5.579000	0.00112	0.202000	0.20498	0.205000	0.17691	GAG		0.463	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		5	322	0	0	0	1	0	5	322				
HSD17B7P2	158160	broad.mit.edu	37	10	38654450	38654450	+	RNA	SNP	T	T	G			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:38654450T>G	ENST00000494540.1	+	0	617					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAATCTAATTTCAGCCTCGAG	0.478																																						ENST00000494540.1																			0																																																			0							g.chr10:38654450T>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654450T>G								NR_003086.1						0	617	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.478	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	130	0	0	0	1	0	4	130				
SLC2A14	144195	broad.mit.edu	37	12	7972131	7972131	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:7972131G>T	ENST00000543909.1	-	14	1846	c.1087C>A	c.(1087-1089)Ctt>Att	p.L363I	SLC2A14_ENST00000340749.5_Missense_Mutation_p.L340I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L254I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L254I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L378I|SLC2A14_ENST00000542505.1_Missense_Mutation_p.L4I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L363I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L340I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	363					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATCCCTCCAAGGCCTATCATA	0.428																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(1087-1089)Ctt>Att		solute carrier family 2 (facilitated glucose transporter), member 14							61.0	54.0	57.0					12																	7972131		2203	4297	6500	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7972131G>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1087C>A	12.37:g.7972131G>T	ENSP00000440480:p.Leu363Ile					SLC2A14_ENST00000542505.1_Missense_Mutation_p.L4I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L363I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L378I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.L340I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L340I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L254I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L254I	p.L363I			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	14	1846	-			363					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1087C>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205498	0.58234	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	2.56	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.77336	0.4115	L	0.60957	1.885	0.45747	D	0.998642	P;P;D;P	0.54047	0.932;0.932;0.964;0.566	P;P;P;B	0.59357	0.777;0.856;0.596;0.403	T	0.77011	-0.2746	10	0.66056	D	0.02	.	7.0001	0.24805	0.1566:0.0:0.8434:0.0	.	378;254;340;363	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	I	340;363;340;4;363;254;254;378	ENSP00000340450:L340I;ENSP00000440480:L363I;ENSP00000407287:L340I;ENSP00000438484:L4I;ENSP00000379834:L363I;ENSP00000440492:L254I;ENSP00000443903:L254I;ENSP00000445929:L378I	ENSP00000340450:L340I	L	-	1	0	SLC2A14	7863398	1.000000	0.71417	0.995000	0.50966	0.369000	0.29798	2.128000	0.42045	1.432000	0.47375	0.184000	0.17185	CTT		0.428	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		6	480	1	0	5.18039e-06	1	5.61572e-06	6	480				
CDC42BPG	55561	broad.mit.edu	37	11	64595223	64595223	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:64595223C>T	ENST00000342711.5	-	31	3999	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATGGAGTTCTCGCTGAACACT	0.637																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4000-4002)Gag>Aag		CDC42 binding protein kinase gamma (DMPK-like)							106.0	88.0	94.0					11																	64595223		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64595223C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4000G>A	11.37:g.64595223C>T	ENSP00000345133:p.Glu1334Lys						p.E1334K	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			31	3999	-			1334			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.4000G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290905	0.95546	.	.	ENSG00000171219	ENST00000342711	T	0.04502	3.61	4.8	4.8	0.61643	Citron-like (2);	0.000000	0.43260	D	0.000595	T	0.22975	0.0555	M	0.80616	2.505	0.50467	D	0.999873	D	0.89917	1.0	D	0.77004	0.989	T	0.00792	-1.1564	10	0.87932	D	0	.	15.7563	0.78030	0.0:1.0:0.0:0.0	.	1334	Q6DT37	MRCKG_HUMAN	K	1334	ENSP00000345133:E1334K	ENSP00000345133:E1334K	E	-	1	0	CDC42BPG	64351799	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	6.808000	0.75206	2.398000	0.81561	0.462000	0.41574	GAG		0.637	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		51	80	0	0	0	1	0	51	80				
FKBP14	55033	broad.mit.edu	37	7	30066109	30066109	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:30066109A>C	ENST00000222803.5	-	1	191	c.16T>G	c.(16-18)Tgg>Ggg	p.W6G	PLEKHA8_ENST00000449726.1_5'Flank|PLEKHA8_ENST00000258679.7_5'Flank|AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000396259.1_5'Flank|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	6					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						ACCGCGTTCCACAAGAAAAGC	0.448																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(16-18)Tgg>Ggg		FK506 binding protein 14, 22 kDa							70.0	69.0	69.0					7																	30066109		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30066109A>C	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.16T>G	7.37:g.30066109A>C	ENSP00000222803:p.Trp6Gly						p.W6G	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			1	191	-			6						Missense_Mutation	SNP	ENST00000222803.5	37	c.16T>G	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	A	9.204	1.029199	0.19512	.	.	ENSG00000106080	ENST00000222803	T	0.35421	1.31	6.08	2.33	0.28932	.	0.459191	0.26334	N	0.024980	T	0.23727	0.0574	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.14254	-1.0479	10	0.27785	T	0.31	-33.4721	4.3952	0.11360	0.6942:0.0:0.1604:0.1454	.	6	Q9NWM8	FKB14_HUMAN	G	6	ENSP00000222803:W6G	ENSP00000222803:W6G	W	-	1	0	FKBP14	30032634	0.302000	0.24454	0.861000	0.33841	0.098000	0.18820	1.624000	0.37018	0.520000	0.28426	0.482000	0.46254	TGG		0.448	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		9	305	0	0	0	1	0	9	305				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	235	0	0	0	1	0	6	235				
RAD23B	5887	broad.mit.edu	37	9	110087200	110087200	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:110087200G>C	ENST00000358015.3	+	9	1382	c.1031G>C	c.(1030-1032)gGt>gCt	p.G344A	RAD23B_ENST00000416373.2_Missense_Mutation_p.G272A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	344	Poly-Gly.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGGTGGAGGTGGCAGTGGA	0.423								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1030-1032)gGt>gCt	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							90.0	77.0	81.0					9																	110087200		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110087200G>C		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1031G>C	9.37:g.110087200G>C	ENSP00000350708:p.Gly344Ala					RAD23B_ENST00000416373.2_Missense_Mutation_p.G272A	p.G344A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			9	1382	+			344			Poly-Gly.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.1031G>C	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963409	0.53507	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18502	2.21;2.24	5.5	5.5	0.81552	UBA-like (1);	0.224048	0.44097	D	0.000484	T	0.11367	0.0277	N	0.12182	0.205	0.42947	D	0.994365	B;B;P	0.36683	0.003;0.077;0.565	B;B;B	0.34038	0.008;0.014;0.174	T	0.22556	-1.0213	10	0.20519	T	0.43	-1.3038	19.762	0.96323	0.0:0.0:1.0:0.0	.	323;344;344	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	A	344;272	ENSP00000350708:G344A;ENSP00000405623:G272A	ENSP00000350708:G344A	G	+	2	0	RAD23B	109127021	1.000000	0.71417	0.959000	0.39883	0.808000	0.45660	9.149000	0.94659	2.741000	0.93983	0.650000	0.86243	GGT		0.423	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		4	333	0	0	0	1	0	4	333				
FAM47C	442444	broad.mit.edu	37	X	37029070	37029070	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:37029070G>T	ENST00000358047.3	+	1	2639	c.2587G>T	c.(2587-2589)Gtt>Ttt	p.V863F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	863										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACCTAGGAGTTAATGAAGA	0.458																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2587-2589)Gtt>Ttt		family with sequence similarity 47, member C							121.0	114.0	116.0					X																	37029070		2202	4297	6499	SO:0001583	missense	442444							g.chrX:37029070G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2587G>T	X.37:g.37029070G>T	ENSP00000367913:p.Val863Phe						p.V863F	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2639	+			863					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2587G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279633	0.23307	.	.	ENSG00000198173	ENST00000358047	T	0.62232	0.04	0.829	-0.288	0.12855	.	.	.	.	.	T	0.70474	0.3228	M	0.65975	2.015	0.09310	N	1	D	0.64830	0.994	D	0.64410	0.925	T	0.59026	-0.7531	8	0.72032	D	0.01	.	.	.	.	.	863	Q5HY64	FA47C_HUMAN	F	863	ENSP00000367913:V863F	ENSP00000367913:V863F	V	+	1	0	FAM47C	36938991	0.004000	0.15560	0.010000	0.14722	0.019000	0.09904	-0.226000	0.09139	-0.180000	0.10637	0.277000	0.19347	GTT		0.458	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	357	1	0	0.0293803	1	0.0296099	6	357				
SPEN	23013	broad.mit.edu	37	1	16257931	16257937	+	Frame_Shift_Del	DEL	TGCCAAG	TGCCAAG	-	rs368522361|rs142022144		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:16257931_16257937delTGCCAAG	ENST00000375759.3	+	11	5400_5406	c.5196_5202delTGCCAAG	c.(5194-5202)gatgccaagfs	p.DAK1732fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1732					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTTATCTGGATGCCAAGCCTCCAACTC	0.57																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5194-5202)gafs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257931_16257937delTGCCAAG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5196_5202delTGCCAAG	1.37:g.16257931_16257937delTGCCAAG	ENSP00000364912:p.Asp1732fs						p.DAK1732fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5400_5406	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1732					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.5196_5202delTGCCAAG	CCDS164.1																																																																																				0.570	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		103	645						103	645	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115216566	115216585	+	Frame_Shift_Del	DEL	CAGTGAGATCATTAGCCCTT	CAGTGAGATCATTAGCCCTT	-	rs182610890		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:115216566_115216585delCAGTGAGATCATTAGCCCTT	ENST00000520113.2	-	14	2033_2052	c.2018_2037delAAGGGCTAATGATCTCACTG	c.(2017-2037)aaagggctaatgatctcactgfs	p.KGLMISL673fs	AMPD1_ENST00000369538.3_Frame_Shift_Del_p.KGLMISL669fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.KGLMISL640fs			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	673					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.G674W(1)|p.K673N(1)|p.K640N(1)|p.G641W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATCTGTAGACAGTGAGATCATTAGCCCTTTCTGAAGGAA	0.395																																						ENST00000369538.3																			4	Substitution - Missense(4)	p.G674W(1)|p.K673N(1)|p.K640N(1)|p.G641W(1)	lung(2)|breast(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(2005-2025)afs		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)																																			SO:0001589	frameshift_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115216566_115216585delCAGTGAGATCATTAGCCCTT	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.2018_2037delAAGGGCTAATGATCTCACTG	1.37:g.115216566_115216585delCAGTGAGATCATTAGCCCTT	ENSP00000430075:p.Lys673fs					AMPD1_ENST00000353928.6_Frame_Shift_Del_p.KGLMISL640fs|AMPD1_ENST00000520113.2_Frame_Shift_Del_p.KGLMISL673fs	p.KGLMISL669fs	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2053_2072	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	640					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Frame_Shift_Del	DEL	ENST00000520113.2	37	c.2006_2025delAAGGGCTAATGATCTCACTG	CCDS876.2																																																																																				0.395	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			47	32						47	32	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			0							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			8	14						8	14	---	---	---	---
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			0							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			6	8						6	8	---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798148	38798148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:38798148delA	ENST00000502213.2	-	3	2534	c.2305delT	c.(2305-2307)tggfs	p.W769fs	TLR1_ENST00000308979.2_Frame_Shift_Del_p.W769fs|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	769	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAGTTAGCCCAAAAAAGGCCA	0.418																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2305-2307)ggfs		toll-like receptor 1							85.0	80.0	82.0					4																	38798148		2203	4300	6503	SO:0001589	frameshift_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798148delA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2305delT	4.37:g.38798148delA	ENSP00000421259:p.Trp769fs					TLR1_ENST00000502213.2_Frame_Shift_Del_p.W769fs	p.W769fs	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2578	-			769			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Frame_Shift_Del	DEL	ENST00000502213.2	37	c.2305delT	CCDS33973.1																																																																																				0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			7	450						7	450	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	588						7	588	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	GAG	-	rs146939312		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:105412094_105412096delGAG	ENST00000426831.1	-	1	371_373	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	CXXC4_ENST00000394767.2_In_Frame_Del_p.288_289SS>S|AC004053.1_ENST00000500179.1_RNA|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	119	Poly-Ser.				negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.S120A(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606																																						ENST00000394767.2																			1	Substitution - Missense(1)	p.S120A(1)	large_intestine(1)	kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(862-867)tcg>tc		CXXC finger protein 4				3,4263		0,3,2130						2.7	1.0			75	7,8245		0,7,4119	no	coding	CXXC4	NM_025212.1		0,10,6249	A1A1,A1R,RR		0.0848,0.0703,0.0799				10,12508				SO:0001651	inframe_deletion	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412094_105412096delGAG		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.357_359delCTC	4.37:g.105412103_105412105delGAG	ENSP00000412267:p.Ser123del					AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del	p.SS290del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1314_1316	-			121						In_Frame_Del	DEL	ENST00000426831.1	37	c.864_866delCTC																																																																																					0.606	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		7	486						7	486	---	---	---	---
ZSCAN16	80345	broad.mit.edu	37	6	28097476	28097480	+	Frame_Shift_Del	DEL	ATGTG	ATGTG	-	rs143274731		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:28097476_28097480delATGTG	ENST00000340487.4	+	4	944_948	c.795_799delATGTG	c.(793-801)aaatgtgatfs	p.CD266fs	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	266					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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGCCCTATAAATGTGATGAGTGTGG	0.405																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(793-801)aaatfs		zinc finger and SCAN domain containing 16																																				SO:0001589	frameshift_variant	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097476_28097480delATGTG	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.795_799delATGTG	6.37:g.28097476_28097480delATGTG	ENSP00000366527:p.Cys266fs					RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA	p.KCD265fs	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			4	944_948	+			265					Q9H6K2	Frame_Shift_Del	DEL	ENST00000340487.4	37	c.795_799delATGTG	CCDS4644.1																																																																																				0.405	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		139	48						139	48	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6771663	6771664	+	RNA	INS	-	-	T			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:6771663_6771664insT	ENST00000486256.1	+	0	619					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		AGGATTCCTACttttttttttc	0.416																																						ENST00000486256.1																			0																																																			0							g.chr7:6771663_6771664insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6771673_6771673dupT								NR_002217.1						0	619	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.416	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		8	239						8	239	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:24705666delA	ENST00000222644.5	+	8	1160	c.910delA	c.(910-912)aaafs	p.K308fs	MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATAAGTAGCAAAAAAAAGAA	0.299																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(910-912)aafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							88.0	103.0	98.0					7																	24705666		2198	4295	6493	SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705666delA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.910delA	7.37:g.24705666delA	ENSP00000222644:p.Lys308fs					MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs	p.K308fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1209	+			308					B2RAF0	Frame_Shift_Del	DEL	ENST00000222644.5	37	c.910delA	CCDS5388.1																																																																																				0.299	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			9	832						9	832	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)aaggatfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(538-543)tfs		wingless-type MMTV integration site family member 2																																				SO:0001589	frameshift_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955171_116955175delTCCTT	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.538_542delAAGGA	7.37:g.116955181_116955185delTCCTT	ENSP00000265441:p.Lys180fs					AC002465.2_ENST00000436097.1_RNA	p.KD180fs	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	837_841	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		180					A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	c.538_542delAAGGA	CCDS5771.1																																																																																				0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		7	659						7	659	---	---	---	---
TMEM38B	55151	broad.mit.edu	37	9	108456999	108456999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:108456999delT	ENST00000374692.3	+	1	175	c.58delT	c.(58-60)tttfs	p.F21fs		NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	21						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CATGTTTCCCTTTTTTGACAT	0.627																																						ENST00000374692.3																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(58-60)ttfs		transmembrane protein 38B							110.0	90.0	97.0					9																	108456999		2203	4300	6503	SO:0001589	frameshift_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108456999delT	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.58delT	9.37:g.108456999delT	ENSP00000363824:p.Phe21fs						p.F21fs	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN			1	175	+			21					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Frame_Shift_Del	DEL	ENST00000374692.3	37	c.58delT	CCDS6768.1																																																																																				0.627	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		7	712						7	712	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del|RABL6_ENST00000371675.3_In_Frame_Del_p.K545del|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																						ENST00000371675.3																			0											c.(1612-1617)gag>g		RAB, member RAS oncogene family-like 6			,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684							g.chr9:139734633_139734635delAGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del					RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del	p.EK538del							14	2498_2500	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	c.1613_1615delAGA	CCDS48058.1																																																																																				0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		8	281						8	281	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7456935	7456935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:7456935delT	ENST00000399422.4	+	1	56	c.8delT	c.(7-9)attfs	p.I3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCATGAAGATTTTTTTCCGC	0.473																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(7-9)atfs		acyl-CoA synthetase medium-chain family member 4							134.0	130.0	131.0					12																	7456935		1881	4115	5996	SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456935delT		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.8delT	12.37:g.7456935delT	ENSP00000382349:p.Ile3fs						p.I3fs	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	56	+			3					A8MTI6	Frame_Shift_Del	DEL	ENST00000399422.4	37	c.8delT	CCDS44825.1																																																																																				0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		8	899						8	899	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546056	11546056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:11546056delG	ENST00000389362.4	-	3	991	c.956delC	c.(955-957)ccafs	p.P322fs	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	322	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGGTGGGGGACCTTG	0.612																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(955-957)cafs		proline-rich protein BstNI subfamily 2							88.0	113.0	104.0					12																	11546056		2170	4266	6436	SO:0001589	frameshift_variant	653247							g.chr12:11546056delG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.956delC	12.37:g.11546056delG	ENSP00000374013:p.Pro322fs					PRB1_ENST00000546254.1_Intron	p.P322fs	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	991	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Frame_Shift_Del	DEL	ENST00000389362.4	37	c.956delC	CCDS41757.2																																																																																				0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	871						7	871	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttgctg>ttg	p.4430_4431LL>L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4430					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13288-13293)ttg>t		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001651	inframe_deletion	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605740_57605742delTGC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13289_13291delTGC	12.37:g.57605749_57605751delTGC	ENSP00000243077:p.Leu4434del						p.LL4432del	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13755_13757	+			4432					Q2PP12|Q86SW0|Q8IVG8	In_Frame_Del	DEL	ENST00000243077.3	37	c.13289_13291delTGC	CCDS8932.1																																																																																				0.557	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	687						8	687	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		7	1226						7	1226	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		22	1308						22	1308	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		11	431						11	431	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861737	108861737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr13:108861737delT	ENST00000356922.4	-	2	2152	c.1880delA	c.(1879-1881)aagfs	p.K627fs	LIG4_ENST00000405925.1_Frame_Shift_Del_p.K627fs|LIG4_ENST00000442234.1_Frame_Shift_Del_p.K627fs	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	627					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGCTTTCCGCTTTTTTTCTTG	0.383								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1879-1881)agfs	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							71.0	72.0	72.0					13																	108861737		2203	4300	6503	SO:0001589	frameshift_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861737delT	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1880delA	13.37:g.108861737delT	ENSP00000349393:p.Lys627fs					LIG4_ENST00000442234.1_Frame_Shift_Del_p.K627fs|LIG4_ENST00000405925.1_Frame_Shift_Del_p.K627fs	p.K627fs	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2152	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		627					Q8IY66|Q8TEU5	Frame_Shift_Del	DEL	ENST00000356922.4	37	c.1880delA	CCDS9508.1																																																																																				0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		8	497						8	497	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102551161	102551163	+	In_Frame_Del	DEL	TCT	TCT	-	rs55793809	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:102551161_102551163delTCT	ENST00000216281.8	-	5	1041_1043	c.836_838delAGA	c.(835-840)aagatt>att	p.K279del	HSP90AA1_ENST00000441629.2_In_Frame_Del_p.K100del|HSP90AA1_ENST00000334701.7_In_Frame_Del_p.K401del	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ttttccttaatcttcttcttctt	0.389																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1201-1206)att>a		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)																																			SO:0001651	inframe_deletion	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551161_102551163delTCT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.836_838delAGA	14.37:g.102551170_102551172delTCT	ENSP00000216281:p.Lys279del					HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del|HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del	p.KI401del	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1483_1485	-			279					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	In_Frame_Del	DEL	ENST00000216281.8	37	c.1202_1204delAGA	CCDS9967.1																																																																																				0.389	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		11	299						11	299	---	---	---	---
SLC6A10PB	653562	broad.mit.edu	37	16	32896136	32896137	+	lincRNA	DEL	TG	TG	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr16:32896136_32896137delTG	ENST00000398669.2	+	0	0				SLC6A10P_ENST00000330048.5_RNA																							agtggCCCATtgtgtgtgtgtg	0.678																																						ENST00000330048.5																			0																																																			0							g.chr16:32896136_32896137delTG																													16.37:g.32896146_32896147delTG								NR_003083.2						0	233	-									RNA	DEL	ENST00000398669.2	37																																																																																						0.678	RP11-989E6.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432084.1			3	4						3	4	---	---	---	---
TUBB8P7	197331	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr16:90161966delT	ENST00000564451.1	+	0	1319				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTACCATGAGTTGGGGTCACC	0.542													|||unknown(NO_COVERAGE)	2930	0.585064	0.9251	0.4539	5008	,	,		11430	0.7718		0.3807	False		,,,				2504	0.2362					ENST00000564451.1																			0																																																			0							g.chr16:90161966delT			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161966delT						TUBB8P7_ENST00000567960.1_RNA								0	1319	+									RNA	DEL	ENST00000564451.1	37																																																																																						0.542	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	10						6	10	---	---	---	---
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_In_Frame_Del_p.P256del	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			7	199						7	199	---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66539865	66539868	+	Intron	DEL	GGAA	GGAA	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:66539865_66539868delGGAA	ENST00000592554.1	-	5	1442				AC079210.1_ENST00000600820.1_Frame_Shift_Del_p.GR42fs|FAM20A_ENST00000226094.5_Intron|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A						calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GCTGCTGTCTGGAAGGAAGGAAGG	0.51																																						ENST00000600820.1																			0											c.(124-129)ggfs																																						SO:0001627	intron_variant	0							g.chr17:66539865_66539868delGGAA	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.720-3TTCC>-	17.37:g.66539873_66539876delGGAA						PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000592554.1_Intron|FAM20A_ENST00000226094.5_Intron	p.GR42fs							1	497_500	+								B2RN47|B2RN49|Q9UF95	Frame_Shift_Del	DEL	ENST00000592554.1	37	c.124_127delGGAA	CCDS11679.1																																																																																				0.510	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		7	321						7	321	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		9	483						9	483	---	---	---	---
TGIF1	7050	broad.mit.edu	37	18	3452222	3452223	+	Frame_Shift_Del	DEL	CT	CT	-	rs11571510|rs557543525|rs559432063|rs202189171	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr18:3452222_3452223delCT	ENST00000330513.5	+	1	548_549	c.245_246delCT	c.(244-246)cctfs	p.P85fs	TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000345133.5_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGCGCCCCCCCTCCTCCACCGG	0.762																																						ENST00000330513.5																			1	Deletion - Frameshift(1)	p.P83fs*51(1)	large_intestine(1)	cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(244-246)cfs		TGFB-induced factor homeobox 1			,,,,,,	1145,3085		260,625,1230					,,,,,,	-2.3	0.0		dbSNP_120	14	2890,5274		725,1440,1917	no	intron,intron,intron,intron,intron,frameshift,intron	TGIF1	NM_174886.1,NM_173210.1,NM_173209.1,NM_173208.1,NM_173207.1,NM_170695.2,NM_003244.2	,,,,,,	985,2065,3147	A1A1,A1R,RR		35.3993,27.0686,32.5561	,,,,,,	,,,,,,		4035,8359				SO:0001589	frameshift_variant	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3452222_3452223delCT	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.245_246delCT	18.37:g.3452222_3452223delCT	ENSP00000327959:p.Pro85fs					TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000407501.2_Intron	p.P85fs	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN			1	548_549	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	85					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Frame_Shift_Del	DEL	ENST00000330513.5	37	c.245_246delCT	CCDS11834.1																																																																																				0.762	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		7	147						7	147	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		7	105						7	105	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39981287	39981287	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:39981287delA	ENST00000373257.3	+	10	1496	c.1405delA	c.(1405-1407)aaafs	p.K469fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	469					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGACCTCACCAAAAACCCCGG	0.562																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1405-1407)aafs		lipin 3							166.0	182.0	177.0					20																	39981287		2203	4300	6503	SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39981287delA	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1405delA	20.37:g.39981287delA	ENSP00000362354:p.Lys469fs						p.K469fs	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			10	1496	+		Myeloproliferative disorder(115;0.000739)	469					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Del	DEL	ENST00000373257.3	37	c.1405delA	CCDS33469.1																																																																																				0.562	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		7	1435						7	1435	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			10	313						10	313	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		8	389						8	389	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	224						7	224	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	312						7	312	---	---	---	---
